On February 6,2023,a devastating earthquake with a moment magnitude of M_(W)7.8 struck the town of Pazarcik in south-central Türkiye,followed by another powerful earthquake with a moment magnitude of M_(W)7.6 tha...On February 6,2023,a devastating earthquake with a moment magnitude of M_(W)7.8 struck the town of Pazarcik in south-central Türkiye,followed by another powerful earthquake with a moment magnitude of M_(W)7.6 that struck the nearby city of Elbistan 9 h later.To study the characteristics of surface deformation caused by this event and the influence of fault rupture,this study calculated the static coseismic deformation of 56 stations and dynamic displacement waveforms of 15 stations using data from the Turkish national fixed global navigation satellite system(GNSS)network.A maximum static coseismic displacement of 0.38 m for the M_(W)7.8 Kahramanmaras earthquake was observed at station ANTE,36 km from the epicenter,and a maximum dynamic coseismic displacement of 4.4 m for the M_(W)7.6 Elbistan earthquake was observed at station EKZ1,5 km from the epicenter.The rupture-slip distributions of the two earthquakes were inverted using GNSS coseismic deformation as a constraint.The results showed that the Kahramanmaras earthquake rupture segment was distinct and exposed on the ground,resulting in significant rupture slip along the Amanos and Pazarcik fault segments of the East Anatolian Fault.The maximum slip in the Pazarcik fault segment was 10.7 m,and rupture occurred at depths of 0–15 km.In the Cardak fault region,the Elbistan earthquake caused significant ruptures at depths of 0–12 km,with the largest amount of slip reaching 11.6 m.The Coulomb stress change caused by the Kahramanmaras earthquake rupture along the Cardak fault segment was approximately 2 bars,and the area of increased Coulomb stress corresponded to the subsequent rupture region of the M_(W)7.6 earthquake.Thus,it is likely that the M_(W)7.8 earthquake triggered or promoted the M_(W)7.6 earthquake.Based on the cumulative stress impact of the M_(W)7.8 and M_(W)7.6 events,the southwestern segment of the East Anatolian Fault,specifically the Amanos fault segment,experienced a Coulomb rupture stress change exceeding 2 bars,warranting further attention to assess its future seismic hazard risk.展开更多
Safe emplacement of high-level nuclear waste(HLNW)arising from the utilization of nuclear power is a frequently en-countered and considerably challenging issue.The widely accepted and feasible approach for the permane...Safe emplacement of high-level nuclear waste(HLNW)arising from the utilization of nuclear power is a frequently en-countered and considerably challenging issue.The widely accepted and feasible approach for the permanent disposal of HLNW involves housing it in a corrosion-resistant container and subsequently burying it deep in a geologic repository.The focus lies on ensuring the dur-ability and integrity of the container in this process.This review introduces various techniques and strategies employed in controlling the corrosion of used fuel containers(UFCs)using copper(Cu)as corrosion barrier in the context of deep geological disposal.Overall,these corrosion prevention techniques and methods have been effectively implemented and employed to successfully mitigate the corrosion challenges encountered during the permanent disposal of Cu containers(e.g.,corrosion mechanisms and corrosion parameters)in deep geologic repositories.The primary objective of this review is to provide an extensive examination of the alteration in the corrosion envir-onment encountered by the UFCs when subjected to deep geologic repository conditions and focusing on addressing the potential corro-sion scenarios.展开更多
Heparan sulfate proteoglycan 2(HSPG2)gene encodes the matrix protein Perlecan,and genetic inactivation of this gene creates mice that are embryonic lethal with severe neural tube defects(NTDs).We discovered rare genet...Heparan sulfate proteoglycan 2(HSPG2)gene encodes the matrix protein Perlecan,and genetic inactivation of this gene creates mice that are embryonic lethal with severe neural tube defects(NTDs).We discovered rare genetic variants of HSPG2 in 10%cases compared to only 4%in controls among a cohort of 369 NTDs.Endorepellin,a peptide cleaved from the domain V of Perlecan,is known to promote angiogenesis and autophagy in endothelial cells.The roles of enderepellin in neurodevelopment remain unclear so far.Our study revealed that endorepellin can migrate to the neuroepithelial cells and then be recognized and bind with the neuroepithelia receptor neurexin in vivo.Through the endocytic pathway,the interaction of endorepellin and neurexin physiologically triggers autophagy and appropriately modulates the differentiation of neural stem cells into neurons as a blocker,which is necessary for normal neural tube closure.We created knock-in(KI)mouse models with human-derived HSPG2 variants,using sperm-like stem cells that had been genetically edited by CRISPR/Cas9.We realized that any HSPG2 variants that affected the function of endorepellin were considered pathogenic causal variants for human NTDs given that the severe NTD phenotypes exhibited by these KI embryos occurred in a significantly higher response frequency compared to wildtype embryos.Our study provides a paradigm for effectively confirming pathogenic mutations in other genetic diseases.Furthermore,we demonstrated that using autophagy inhibitors at a cellular level can repress neuronal differentiation.Therefore,autophagy agonists may prevent NTDs resulting from failed autophagy maintenance and neuronal over-differentiation caused by deleterious endorepellin variants.展开更多
The BMP signaling pathway plays a crucial role in regulating early embryonic development and tissue homeostasis.SMAD6 encodes a negative regulator of BMP,and rare variants of SMAD6 are recurrently found in individuals...The BMP signaling pathway plays a crucial role in regulating early embryonic development and tissue homeostasis.SMAD6 encodes a negative regulator of BMP,and rare variants of SMAD6 are recurrently found in individuals with birth defects.However,we observed that a subset of rare pathogenic variants of SMAD6 consistently exhibited positive regulatory effects instead of the initial negative effects on the BMP signaling pathway.We sought to determine whether these SMAD6 variants have common pathogenic mechanisms.Here,we showed that pathogenic SMAD6 variants accompanying this functional reversal exhibit similar increases in deamidation.Mechanistically,increased deamidation of SMAD6 variants promotes the accumulation of the BMP receptor BMPR1A and the formation of new complexes,both of which lead to BMP signaling pathway activation.Specifically,two residues,N262 and N404,in SMAD6 were identified as the crucial sites of deamidation,which was catalyzed primarily by glutamine-fructose-6-phosphate transaminase 2(GFPT2).Additionally,treatment of cells harboring SMAD6 variants with a deamidase inhibitor restored the inhibitory effect of SMAD6 on the BMP signaling pathway.Conversely,when wild-type SMAD6 was manually simulated to mimic the deamidated state,the reversed function of activating BMP signaling was reproduced.Taken together,these findings show that deamidation of SMAD6 plays a crucial role in the functional reversal of BMP signaling activity,which can be induced by a subset of various SMAD6 variants.Our study reveals a common pathogenic mechanism shared by these variants and provides a potential strategy for preventing birth defects through deamidation regulation,which might prevent the off-target effects of gene editing.展开更多
Aomalous changes in the ST segment, including ST level deviation and ST shape change, are the major parameters in clinical electrocardiogram (ECG) diagnosis of myocardial ischemia. Automatic detection of ST segment mo...Aomalous changes in the ST segment, including ST level deviation and ST shape change, are the major parameters in clinical electrocardiogram (ECG) diagnosis of myocardial ischemia. Automatic detection of ST segment morphology can provide a more accurate evidence for clinical diagnosis of myocardial ischemia. In this paper, we proposed a method for classifying the shape of the ST-segment based on the curvature scale space (CSS) technique. First, we established a reference ST set and preprocessed the ECG signal by using the CSS technique. Then, the corner points in the ST-segment were detected at a high scale of the CSS and tracked through multiple lower scales, in order to improve its localization. Finally, the current beat of ST morphology can be distinguished by the corner points. We applied the developed algorithm to the ECG recordings in European ST-T database and QT database to validate the accuracy of the algorithm. The experimental results showed that the average detection accuracy of our algorithm was 91.60%. We could conclude that the proposed method is able to provide a new way for the automatic detection of myocardial ischemia.展开更多
Growing evidence suggests that somatic hypermutational status and programmed cell death-1 overexpression are potential predictive biomarkers indicating treatment benefits from immunotherapy using immune checkpoint inh...Growing evidence suggests that somatic hypermutational status and programmed cell death-1 overexpression are potential predictive biomarkers indicating treatment benefits from immunotherapy using immune checkpoint inhibitors.However,biomarker-matched trials are still limited,and many of the genomic alterations remain difficult to target.To isolate the potential somatic hypermutational tumor from microsatellite instability low/microsatellite stability(MSI-L/MSS)cases,we employed two commercial kits to determine MSI and forensic short tandem repeat(STR)alternations in 250 gastrointestinal(GI)tumors.Three types of forensic STR alternations,namely,allelic loss,Aadd,and Anew,were identified.62.4%(156/250)of the patients with GI exhibited STR alternation,including 100%(15/15)and 60%(141/235)of the microsatellite high instability and MSI-L/MSS cases,respectively.30%(75/250)of the patients exhibited STR instability with more than 26.32%(26.32%–84.21%)STR alternation.The cutoff with 26.32%of the STR alternations covered all 15 MSI cases and suggested that it might be a potential threshold.Given the similar mechanism of the mutations of MSI and forensic STR,the widely used forensic identifier STR kit might provide potential usage for identifying hypermutational status in GI cancers.展开更多
A forensic validation study of the Early Access HuaxiaTM Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations.The genotyping of DNA samples was consistent...A forensic validation study of the Early Access HuaxiaTM Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations.The genotyping of DNA samples was consistent across a large range of template DNA concentrations,with complete profiles obtained at 0.125 ng;however,no more than 2 mm× 1.2 mm punches of samples would be recommended for direct amplification.The size precision and accuracy test revealed the genotyping ability;while consistent results were obtained when comparing the kit with other commercially available systems.In addition,the whole PCR amplification can finish within approximately 45 min,making the system suitable for fastdetection.However,only partial profiles may be obtained with challenging samples,including DNA stored on Foam-Tipped Applicators (FTA) cards or some case samples.For the forensic application in ethnic groups,a total of 282 and 229 alleles were obtained in Han and Mongolia,respectively.Since the 23 short tandem repeats were independent from each other,the cumulative power of exclusion in duos was 0.999999157188 and the cumulative power of exclusion in trios was 0.999999999859 in the Han group while the cumulative power of exclusion in duos (CPEduo) was 0.999 998 848 26 and cumulative power of exclusion in trios (CPEtrio) was 0.999 999 999 79 in the Mongolia group.And good internal consistency was found between the two investigated groups and the Sichuan Han,Hui,Tibetan and Uygur according to available reference data.展开更多
Insertion/deletion polymorphisms(InDels)have been treated as a prospective and helpful genetic marker in the fields of forensic human identification,anthropology and population genetics for the past few years.In this ...Insertion/deletion polymorphisms(InDels)have been treated as a prospective and helpful genetic marker in the fields of forensic human identification,anthropology and population genetics for the past few years.In this study,we developed a six-dye multiplex typing system consisting of 34 autosomal InDels and Amelogenin for forensic application.The contained InDels were specifically selected for Chinese population with the MAF≥0.25 in East Asia,which do not overlap with the markers of Investigator^(■)DIPplex kit.The typing system was named as GoldeneyeTM DNA ID System 35InDel Kit,and a series of developmental validation studies including repeatability/reproducibility,concordance,accuracy,sensitivity,stability,species specificity and population genetics were conducted on this kit.We confirmed that the 35InDel kit is precise,sensitive,species specific and robust for forensic practice.Moreover,the 35InDel kit is capable of typing DNA extracted from forensic routine case-type samples as well as degraded samples and mixture samples.All markers are proved to be highly polymorphic with an average observed heterozygosity(He)of 0.4582.The combined power of discrimination(CPD)is 0.999999999999978 and the combined power of exclusion in duos(CPE_(D))and trios(CPE_(T))are 0.978837 and 0.999573,respectively,which are higher than those of the Investigator^(■)DIPplex kit.Thus,the GoldeneyeTM DNA ID System 35InDel kit is suitable for forensic human identification and could serve as a supplementary typing system for paternity testing.展开更多
Short tandem repeat(STR)profiling is one of the mostly used systems for forensic applications.In certain circumstances,STR profiling is time-consuming and costly,which potentially leads to delays in criminal investiga...Short tandem repeat(STR)profiling is one of the mostly used systems for forensic applications.In certain circumstances,STR profiling is time-consuming and costly,which potentially leads to delays in criminal investigations.LGC(Laboratory of the Government Chemist,UK)Forensics has developed a robust STR profiling platform called the ParaDNAVR Intelligence Test System which can provide early tactical intelligence and aid investigators in making informed decisions on sample prioritization for detection.Here,we validated the ParaDNA^(■) intelligence test for its application in forensic cases using a range of mock evidence items following guidelines set by the Scientific Working Group on DNA Analysis Methods(SWGDAM).Specifically,we tested the sensitivity and accuracy of the ParaDNA intelligence test,as well as the success rates for detecting mock samples and for use in case scenarios.Our findings demonstrate that the ParaDNA intelligence test generates useful DNA profiles,especially for samples such as blood,saliva,and semen that contain ample DNA,indicating the benefits of including ParaDNA as a prior step in forensic STR profiling pipelines.展开更多
The Investigator 24plex QS Kit(QIAGEN,Hilden,Germany)is a 6-dye fluorescent chemistry short tandem repeat(STR)polymerase chain reaction(PCR)amplification system that simultaneously amplifies 20 of the expanded Combine...The Investigator 24plex QS Kit(QIAGEN,Hilden,Germany)is a 6-dye fluorescent chemistry short tandem repeat(STR)polymerase chain reaction(PCR)amplification system that simultaneously amplifies 20 of the expanded Combined DNA Index System(CODIS)core STR loci,SE33,DYS391,and the standard sex-determining locus,amelogenin,as well as two special internal performance quality sensor controls(QS1 and QS2),which are included in the primer mix to check the PCR performance.This study was designed to be a pilot evaluation of this STR-PCR kit in a Chinese Han population regarding the PCR conditions,sensitivity,precision,accuracy,repeatability,reproducibility,and concordance;tolerance to PCR inhibitors;applicability to real“forensic-type”samples;species specificity;mixture,balance and stutter analyses,and utility in a population investigation.The exhaustive validation studies demonstrated that the Investigator 24plex QS system is accurate,sensitive and robust for STR genotyping.In addition,these genetic markers in the population data in our study indicated that they can also be useful for forensic identification and paternity testing in the Chinese Han population.展开更多
In recent years, poly(butylene adipate-co-terephthalate)(PBAT) has been widely used. However, PBAT-degrading bacteria have rarely been reported. PBAT-degrading bacteria were isolated from farmland soil and identified....In recent years, poly(butylene adipate-co-terephthalate)(PBAT) has been widely used. However, PBAT-degrading bacteria have rarely been reported. PBAT-degrading bacteria were isolated from farmland soil and identified. The effects of growth factors on the degradation of PBAT and the lipase activity of PBAT-degrading bacteria were assessed. The degradation mechanism was analyzed using scanning electron microscopy, attenuated total reflection Fourier transform infrared spectroscopy, proton nuclear magnetic resonance, Xray diffraction, and liquid chromatography-mass spectrometry. The results showed that Stenotrophomonas sp. YCJ1 had a significant degrading effect on PBAT. Under certain conditions, the strain could secrete 10.53 U/m L of lipase activity and degrade 10.14 wt.% of PBAT films. The strain secreted lipase to catalyze the degradation of the ester bonds in PBAT, resulting in the production of degradation products such as terephthalic acid, 1,4-butanediol, and adipic acid. Furthermore, the degradation products could participate in the metabolism of YCJ1 as carbon sources to facilitate complete degradation of PBAT, indicating that the strain has potential value for the bioremediation of PBAT in the environment.展开更多
Forensic science is crucial for the administration of justice and case investigation.in China,political-legal organizations,including the courts,public security,procuratorate,and judicial administration,developed thei...Forensic science is crucial for the administration of justice and case investigation.in China,political-legal organizations,including the courts,public security,procuratorate,and judicial administration,developed their own forensic practices before 2004.As a result,the frequent and repeated appraisals undermined judicial authority and credibility.Thus,a law was published in 2005 to improve the uniform forensic management system by the Standing Committee of the National People’s Congress,leading to the establishment of the Forensic Administration of the Ministry of Justice in 2006.During this process,the increased accreditation and interflow highlighted the role of consensus in forensic standards for forensic service providers to avoid uncertainty regarding the methods used and interpretation of results.in 2017,a policy document was promulgated again to strengthen the importance of the uniform standards,which also proposed to establish a new national technical committee for the standardization of forensic science by the General Office of the State Council.in 2018,despite the continuing problems concerning uniformity,the Forensic Administration of the Ministry of Justice was merged into the Public Legal Services Administration.Yet,there is still a long way to go for the national technical committee for the standardization of forensic science.This paper analyses the evolution of forensic standards internationally and nationally,discusses the existing problems,and proposes relative solutions.Moreover,it discusses the future of standards development with the deepening of the reformation of both the national standardization and judicial system.展开更多
Dear Editor,Due to human’s cohabitation with domesticated animals,molecular analysis of animal DNA is increasingly being admitted as evidence in forensic investigations.In 2011,recommendations from the International ...Dear Editor,Due to human’s cohabitation with domesticated animals,molecular analysis of animal DNA is increasingly being admitted as evidence in forensic investigations.In 2011,recommendations from the International Society of Forensic Genetics(ISFG)for non-human DNA analysis in forensic casework were published based on the successful model for human DNA[1].Among domesticated animals,canine DNA is perhaps the most often encountered and investigated in the forensic community[2–5].The US,Brazil and China are the top three countries in regards to ownership of canines.Canine DNA in the form of hair,saliva,blood,urine and feces is abundant in the domestic environment and consequently is often present on evidence collected during forensic investigations.A strong need for identity identification,parentage verification and breed recognition has become apparent within the forensic community.展开更多
Definitive diagnosis to sudden cardiac death(SCD)is often challenging since the postmortem examination on SCD victims could hardly demonstrate an adequate cause of death.It is therefore important to uncover the inheri...Definitive diagnosis to sudden cardiac death(SCD)is often challenging since the postmortem examination on SCD victims could hardly demonstrate an adequate cause of death.It is therefore important to uncover the inherited risk component to SCD.Signal transducer and activators of transcription 5 A(STAT5A)is a member of the STAT family and a transcription factor that is activated by many cell ligands and associated with various cardiovascular processes.In this study,we performed a systematic variant screening on the STAT5A to filter potential functional genetic variations.Based on the screening results,an insertion/deletion polymorphism(rs3833144)in 3’UTR of STAT5A was selected as the candidate variant.A total of 159 SCD cases and 668 SCD matched healthy controls was enrolled to perform a case-control study and evaluate the association between rs3833144 and SCD susceptibility in Chinese populations.Logistic regression analysis showed that the deletion allele of rs3833144 had significantly increased the SCD risk(odds ratio(OR)=1.54;95%confidence interval(CI)=1.18-2.01;P=0.000955).Further genotype-expression eQTL analysis showed that samples with deletion allele appeared to lower expression of STAT5A,and in silico prediction suggested the local 3 D structure changes of STAT5A mRNA caused by the variant.On the other hand,the bioinformatic analysis presented that promoters of RARA and PTGES3L-AARSD1 could interact with rs3833144,and eQTL analysis showed the higher expression of both genes in samples with deletion allele.Dual-luciferase activity assays also suggested the significant regulatory role of rs3833144 in gene transcription.Our current data thus suggested a possible involvement of rs3833144 to SCD predisposition in Chinese populations and rs3833144 with potential function roles may become a candidate marker for SCD diagnosis and prevention.展开更多
Hallucinogenic mushroom is a kind of toxic strain containing psychoactive tryptamine substances such as psilocybin,psilocin and ibotenic acid,etc.The mushrooms containing hallucinogenic components are various,widely d...Hallucinogenic mushroom is a kind of toxic strain containing psychoactive tryptamine substances such as psilocybin,psilocin and ibotenic acid,etc.The mushrooms containing hallucinogenic components are various,widely distributed and lack of standard to define,which made a great challenge to identification.Traditional identification methods,such as morphology and toxicology analysis,showed shortcomings in old or processed samples,while the DNA-based identification of hallucinogenic mushrooms would allow to identify these samples due to the stability of DNA.In this paper,four primer sets are designed to target Psilocybe cubensis DNA for increasing resolution of present identification method,and the target markers include largest subunit of RNA polymerase II(marked as PC-R1),psilocybin-related phosphotransferase gene(marked as PC-PT),glyceraldehyde 3-phosphate dehydrogenase(marked as PC-3)and translation EF1α(marked as PC-EF).Real-time PCR with high-resolution melting(HRM)assay were used for the differentiation of the fragments amplified by these primer sets,which were tested for specificity,reproducibility,sensitivity,mixture analysis and multiplex PCR.It was shown that the melting temperatures of PC-R1,PC-PT,PC-3 and PC-EF of P.cubensis were(87.93±0.12)℃,(82.21±0.14)℃,(79.72±0.12)℃ and(80.11±0.19)℃ in our kinds of independent experiments.Significant HRM characteristic can be shown with a low concentration of 62.5pg/µL DNA sample,and P.cubensis could be detected in mixtures with Homo sapiens or Cannabis sativa.In summary,the method of HRM analysis can quickly and specifically distinguish P.cubensis from other species,which could be utilized for forensic science,medical diagnosis and drug trafficking cases.展开更多
Mutations might challenge the paternity index calculation in forensic identification.While many studies have focussed on the autosomal short tandem repeats(A-STR),the mutation status of sex chromosomes and single nucl...Mutations might challenge the paternity index calculation in forensic identification.While many studies have focussed on the autosomal short tandem repeats(A-STR),the mutation status of sex chromosomes and single nucleotide polymorphism(SNP)remain blank.Next generation sequencing(NGS),known as high throughput and large sequence polymorphism,is a promising tool for forensic genetics.To describe the mutation landscapes in the paternity cases with genetic inconsistencies,a total of 63 parentage confirmed paternity cases contained at least one mismatched locus have been collected.The mutations were subsequently evaluated using Verogen’s MPSForenSeqTM DNASignature Kit and a microsatellite instability(MSI)detection kit.The result showed 98.41%(62/63)of the cases had no additional autosomal mutations even when the number of A-STRs increased to 27.As for the sex chromosomes,about 11.11%(7/63)of the cases exhibited either X-STR or Y-STR mutations.D2S1338,FGAand Penta Ewere the most frequent altered STRs,which suggested they might be the mutation hotspots.In addition,a male with sex chromosome abnormality was observed accidently,whose genotype might be 47,XXY,rather than MSI.Nearly 56.90%of the STR loci possessed isoalleles,which might result in higher STR polymorphisms.No Mendelian incompatibility was detected among the SNP markers,which indicated that SNP was a more reliable genetic marker in the genetic-inconsistent paternity cases.展开更多
The custom-designed single nucleotide polymorphism(SNP)panel amplified 231 autosomal SNPs in one PCR reaction and subsequently sequenced with massively parallel sequencing(MPS)technology and Ion Torrent personal genom...The custom-designed single nucleotide polymorphism(SNP)panel amplified 231 autosomal SNPs in one PCR reaction and subsequently sequenced with massively parallel sequencing(MPS)technology and Ion Torrent personal genome machine(PGM).SNPs were chosen from SNPforID,IISNP,HapMap,dbSNP,and related published literatures.Full concordance was obtained between available MPS calling and Sanger sequencing with 9947A and 9948 controls.Ten SNPs(rs4606077,rs334355,rs430046,rs2920816,rs4530059,rs1478829,rs1498553,rs7141285,rs12714757 and rs2189011)with low coverage or heterozygote imbalance should be optimized or excluded from the panel.Sequence data had sufficiently high coverage and gave reliable SNP calling for the remaining 221 loci with the custom MPS-SNP panel.A default DNA input amount of 10 ng per reaction was recommended by Ampliseq technology but sensitivity testing revealed positive results from as little as 1 ng input DNA.Mixture testing with this panel is possible through analysis of the F MAR(frequency of major allele reads)values at most loci with enough high coverage depth and low level of sequencing noise.These results indicate the potential advantage of the custom MPS-SNP assays and Ion Torrent PGM platform for forensic study.展开更多
The Y-chromosomal short tandem repeat polymorphisms(Y-STRs)are the male-specific markers.The characteristics of paternal lineages make it a valuable tool for tracing familial relationships[1-3].Y-STR analysis has been...The Y-chromosomal short tandem repeat polymorphisms(Y-STRs)are the male-specific markers.The characteristics of paternal lineages make it a valuable tool for tracing familial relationships[1-3].Y-STR analysis has been widely used for identifying genealogical DNA testing and to identify missing persons,assess paternal relationships,and investigate sexual assault cases[4,5].展开更多
Dear Editor,Short tandem repeats(STRs),polymorphic DNA regions with a variable number of repeated units(2–6 base pairs),are attractive to forensic applications such as human identification and parentage testing[1].No...Dear Editor,Short tandem repeats(STRs),polymorphic DNA regions with a variable number of repeated units(2–6 base pairs),are attractive to forensic applications such as human identification and parentage testing[1].Nowadays,most of the commercial STR kits are designed based on STRs from the combined DNA index system(CODIS),European Standard Set(ESS),expanded CODIS,and extended ESS[2].In this study,we evaluated 21 STRs from GoldeneyeTM DNA ID 22NC kit(PeopleSpot Inc.,Beijing,China),which including 20 polymorphic non-CODIS STR loci(i.e.D1S1656,D2S441,D3S1744,D3S3045,D4S2366,D5S2500,D6S477,D7S1517,D7S3048,D8S1132,D10S1248,D10S1435,D11S2368,D13S325,D14S608,D15S659,D17S1290,D18S535,D19S253,D22GATA198B05)and a CODIS STR locus(D3S1358),in five ethnic groups(i.e.Eastern Han,Ningxia Hui,Xinjiang Uygur,Xizang Tibetan,and Inner Mongolia Mongolian)of China.The forensic genetic investigation of above loci may provide more genetic information in complex kinship testing and population studies[3,4].展开更多
Like other subjects, forensic genetics gradually emerged and developed through long-term social practice.Following the discovery of the ABO blood groups by Landsteiner in 1900 [1], human blood type was used in identif...Like other subjects, forensic genetics gradually emerged and developed through long-term social practice.Following the discovery of the ABO blood groups by Landsteiner in 1900 [1], human blood type was used in identification, and forensic genetics entered the scientific age.In 1910, the French criminologist Edmond Locard proposed the Locard's exchange principle [2] and stated that "every contact leaves a trace," which laid the foundation for modern forensic science.In 1926, Thomas Hunt Morgan [3] proposed a theory of genes, which provided the basis for the development of forensic genetics.In 1953, the discovery of the double-helical structure of DNA enabled the start of forensic genetics research at the molecular level [3].展开更多
基金Science and Technology Development Fund of Wuhan Institute of Earth Observation,China Earthquake Administration(No.302021-21)Open Fund of Wuhan,Gravitation and Solid Earth Tides,National Observation and Research Station(WHYWZ202218).
文摘On February 6,2023,a devastating earthquake with a moment magnitude of M_(W)7.8 struck the town of Pazarcik in south-central Türkiye,followed by another powerful earthquake with a moment magnitude of M_(W)7.6 that struck the nearby city of Elbistan 9 h later.To study the characteristics of surface deformation caused by this event and the influence of fault rupture,this study calculated the static coseismic deformation of 56 stations and dynamic displacement waveforms of 15 stations using data from the Turkish national fixed global navigation satellite system(GNSS)network.A maximum static coseismic displacement of 0.38 m for the M_(W)7.8 Kahramanmaras earthquake was observed at station ANTE,36 km from the epicenter,and a maximum dynamic coseismic displacement of 4.4 m for the M_(W)7.6 Elbistan earthquake was observed at station EKZ1,5 km from the epicenter.The rupture-slip distributions of the two earthquakes were inverted using GNSS coseismic deformation as a constraint.The results showed that the Kahramanmaras earthquake rupture segment was distinct and exposed on the ground,resulting in significant rupture slip along the Amanos and Pazarcik fault segments of the East Anatolian Fault.The maximum slip in the Pazarcik fault segment was 10.7 m,and rupture occurred at depths of 0–15 km.In the Cardak fault region,the Elbistan earthquake caused significant ruptures at depths of 0–12 km,with the largest amount of slip reaching 11.6 m.The Coulomb stress change caused by the Kahramanmaras earthquake rupture along the Cardak fault segment was approximately 2 bars,and the area of increased Coulomb stress corresponded to the subsequent rupture region of the M_(W)7.6 earthquake.Thus,it is likely that the M_(W)7.8 earthquake triggered or promoted the M_(W)7.6 earthquake.Based on the cumulative stress impact of the M_(W)7.8 and M_(W)7.6 events,the southwestern segment of the East Anatolian Fault,specifically the Amanos fault segment,experienced a Coulomb rupture stress change exceeding 2 bars,warranting further attention to assess its future seismic hazard risk.
基金study received financial support from the National Natural Science Foundation of China(No.U22B2065),EditChecks(https://editchecks.com.cn/)for providing linguistic assistance during the preparation of this manuscript.
文摘Safe emplacement of high-level nuclear waste(HLNW)arising from the utilization of nuclear power is a frequently en-countered and considerably challenging issue.The widely accepted and feasible approach for the permanent disposal of HLNW involves housing it in a corrosion-resistant container and subsequently burying it deep in a geologic repository.The focus lies on ensuring the dur-ability and integrity of the container in this process.This review introduces various techniques and strategies employed in controlling the corrosion of used fuel containers(UFCs)using copper(Cu)as corrosion barrier in the context of deep geological disposal.Overall,these corrosion prevention techniques and methods have been effectively implemented and employed to successfully mitigate the corrosion challenges encountered during the permanent disposal of Cu containers(e.g.,corrosion mechanisms and corrosion parameters)in deep geologic repositories.The primary objective of this review is to provide an extensive examination of the alteration in the corrosion envir-onment encountered by the UFCs when subjected to deep geologic repository conditions and focusing on addressing the potential corro-sion scenarios.
基金supported by the National Key Research and Development Program of China(2021YFC2701100)the National Natural Science Foundation of China(81930036,32293230 and 8215008)+1 种基金the Commission for Science and Technology of Shanghai Municipality(20JC1418500 and 20ZR1404800)Project supported by Shanghai Municipal Science and Technology Major Project。
文摘Heparan sulfate proteoglycan 2(HSPG2)gene encodes the matrix protein Perlecan,and genetic inactivation of this gene creates mice that are embryonic lethal with severe neural tube defects(NTDs).We discovered rare genetic variants of HSPG2 in 10%cases compared to only 4%in controls among a cohort of 369 NTDs.Endorepellin,a peptide cleaved from the domain V of Perlecan,is known to promote angiogenesis and autophagy in endothelial cells.The roles of enderepellin in neurodevelopment remain unclear so far.Our study revealed that endorepellin can migrate to the neuroepithelial cells and then be recognized and bind with the neuroepithelia receptor neurexin in vivo.Through the endocytic pathway,the interaction of endorepellin and neurexin physiologically triggers autophagy and appropriately modulates the differentiation of neural stem cells into neurons as a blocker,which is necessary for normal neural tube closure.We created knock-in(KI)mouse models with human-derived HSPG2 variants,using sperm-like stem cells that had been genetically edited by CRISPR/Cas9.We realized that any HSPG2 variants that affected the function of endorepellin were considered pathogenic causal variants for human NTDs given that the severe NTD phenotypes exhibited by these KI embryos occurred in a significantly higher response frequency compared to wildtype embryos.Our study provides a paradigm for effectively confirming pathogenic mutations in other genetic diseases.Furthermore,we demonstrated that using autophagy inhibitors at a cellular level can repress neuronal differentiation.Therefore,autophagy agonists may prevent NTDs resulting from failed autophagy maintenance and neuronal over-differentiation caused by deleterious endorepellin variants.
基金supported by the National Key Research and Development Program of China(2021YFC2701101)the National Natural Science Foundation of China(82150008,81930036)+1 种基金Commission for Science and Technology of Shanghai Municipality(20JC1418500)Open Fund Project of Guangdong Academy of Medical Sciences(YKY-KF202202)。
文摘The BMP signaling pathway plays a crucial role in regulating early embryonic development and tissue homeostasis.SMAD6 encodes a negative regulator of BMP,and rare variants of SMAD6 are recurrently found in individuals with birth defects.However,we observed that a subset of rare pathogenic variants of SMAD6 consistently exhibited positive regulatory effects instead of the initial negative effects on the BMP signaling pathway.We sought to determine whether these SMAD6 variants have common pathogenic mechanisms.Here,we showed that pathogenic SMAD6 variants accompanying this functional reversal exhibit similar increases in deamidation.Mechanistically,increased deamidation of SMAD6 variants promotes the accumulation of the BMP receptor BMPR1A and the formation of new complexes,both of which lead to BMP signaling pathway activation.Specifically,two residues,N262 and N404,in SMAD6 were identified as the crucial sites of deamidation,which was catalyzed primarily by glutamine-fructose-6-phosphate transaminase 2(GFPT2).Additionally,treatment of cells harboring SMAD6 variants with a deamidase inhibitor restored the inhibitory effect of SMAD6 on the BMP signaling pathway.Conversely,when wild-type SMAD6 was manually simulated to mimic the deamidated state,the reversed function of activating BMP signaling was reproduced.Taken together,these findings show that deamidation of SMAD6 plays a crucial role in the functional reversal of BMP signaling activity,which can be induced by a subset of various SMAD6 variants.Our study reveals a common pathogenic mechanism shared by these variants and provides a potential strategy for preventing birth defects through deamidation regulation,which might prevent the off-target effects of gene editing.
文摘Aomalous changes in the ST segment, including ST level deviation and ST shape change, are the major parameters in clinical electrocardiogram (ECG) diagnosis of myocardial ischemia. Automatic detection of ST segment morphology can provide a more accurate evidence for clinical diagnosis of myocardial ischemia. In this paper, we proposed a method for classifying the shape of the ST-segment based on the curvature scale space (CSS) technique. First, we established a reference ST set and preprocessed the ECG signal by using the CSS technique. Then, the corner points in the ST-segment were detected at a high scale of the CSS and tracked through multiple lower scales, in order to improve its localization. Finally, the current beat of ST morphology can be distinguished by the corner points. We applied the developed algorithm to the ECG recordings in European ST-T database and QT database to validate the accuracy of the algorithm. The experimental results showed that the average detection accuracy of our algorithm was 91.60%. We could conclude that the proposed method is able to provide a new way for the automatic detection of myocardial ischemia.
基金supported by the grants from National Key Research and Development Program of China(Nos.2016YFA0500600 and 2016YFC0800703)the National Science Fund for Distinguished Young Scholars(No.81625013)+1 种基金General Program of National Natural Science Foundation of China(No.81772028)The funders had no role in study design,data analysis,publishing decisions,or manuscript preparation.
文摘Growing evidence suggests that somatic hypermutational status and programmed cell death-1 overexpression are potential predictive biomarkers indicating treatment benefits from immunotherapy using immune checkpoint inhibitors.However,biomarker-matched trials are still limited,and many of the genomic alterations remain difficult to target.To isolate the potential somatic hypermutational tumor from microsatellite instability low/microsatellite stability(MSI-L/MSS)cases,we employed two commercial kits to determine MSI and forensic short tandem repeat(STR)alternations in 250 gastrointestinal(GI)tumors.Three types of forensic STR alternations,namely,allelic loss,Aadd,and Anew,were identified.62.4%(156/250)of the patients with GI exhibited STR alternation,including 100%(15/15)and 60%(141/235)of the microsatellite high instability and MSI-L/MSS cases,respectively.30%(75/250)of the patients exhibited STR instability with more than 26.32%(26.32%–84.21%)STR alternation.The cutoff with 26.32%of the STR alternations covered all 15 MSI cases and suggested that it might be a potential threshold.Given the similar mechanism of the mutations of MSI and forensic STR,the widely used forensic identifier STR kit might provide potential usage for identifying hypermutational status in GI cancers.
基金This study was supported by grants from the National Key R&D Program of China[grant number 2016YFC0800703]the National Natural Science Fund of China[grant numbers 81625013 and 81772028]+2 种基金the Shanghai Technology Stan-dard Programme[grant number 16DZ0501600]the Shang-hai Key Laboratory of Forensic Medicine[grant number 17DZ2273200]the Shanghai Forensic Service Platform[grant number 16DZ2290900].
文摘A forensic validation study of the Early Access HuaxiaTM Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations.The genotyping of DNA samples was consistent across a large range of template DNA concentrations,with complete profiles obtained at 0.125 ng;however,no more than 2 mm× 1.2 mm punches of samples would be recommended for direct amplification.The size precision and accuracy test revealed the genotyping ability;while consistent results were obtained when comparing the kit with other commercially available systems.In addition,the whole PCR amplification can finish within approximately 45 min,making the system suitable for fastdetection.However,only partial profiles may be obtained with challenging samples,including DNA stored on Foam-Tipped Applicators (FTA) cards or some case samples.For the forensic application in ethnic groups,a total of 282 and 229 alleles were obtained in Han and Mongolia,respectively.Since the 23 short tandem repeats were independent from each other,the cumulative power of exclusion in duos was 0.999999157188 and the cumulative power of exclusion in trios was 0.999999999859 in the Han group while the cumulative power of exclusion in duos (CPEduo) was 0.999 998 848 26 and cumulative power of exclusion in trios (CPEtrio) was 0.999 999 999 79 in the Mongolia group.And good internal consistency was found between the two investigated groups and the Sichuan Han,Hui,Tibetan and Uygur according to available reference data.
基金This study was supported by grants from the National Youth Top-Notch Talent of Ten Thousand Program[grant number WRQB2019]the Youth Science and Technology Innovation Leader of Ten Thousand Program[grant number 2018RA2102],China.
文摘Insertion/deletion polymorphisms(InDels)have been treated as a prospective and helpful genetic marker in the fields of forensic human identification,anthropology and population genetics for the past few years.In this study,we developed a six-dye multiplex typing system consisting of 34 autosomal InDels and Amelogenin for forensic application.The contained InDels were specifically selected for Chinese population with the MAF≥0.25 in East Asia,which do not overlap with the markers of Investigator^(■)DIPplex kit.The typing system was named as GoldeneyeTM DNA ID System 35InDel Kit,and a series of developmental validation studies including repeatability/reproducibility,concordance,accuracy,sensitivity,stability,species specificity and population genetics were conducted on this kit.We confirmed that the 35InDel kit is precise,sensitive,species specific and robust for forensic practice.Moreover,the 35InDel kit is capable of typing DNA extracted from forensic routine case-type samples as well as degraded samples and mixture samples.All markers are proved to be highly polymorphic with an average observed heterozygosity(He)of 0.4582.The combined power of discrimination(CPD)is 0.999999999999978 and the combined power of exclusion in duos(CPE_(D))and trios(CPE_(T))are 0.978837 and 0.999573,respectively,which are higher than those of the Investigator^(■)DIPplex kit.Thus,the GoldeneyeTM DNA ID System 35InDel kit is suitable for forensic human identification and could serve as a supplementary typing system for paternity testing.
基金This study was supported by grants from National Key R&D Program of China[grant number 2016YFC0800703]the National Natural Science Foundation of China[grant number 81601651 and 81625013]+2 种基金the Ministry of Finance of China[grant number GY2016D1,GY2018G-9,KF1813]the Shanghai Science and Technology Innovation Fund[grant number 16DZ1205500,16DZ2290900,17DZ2273200]the funders had no role in study design,data analysis,decision to publish,or preparation of the manuscript.
文摘Short tandem repeat(STR)profiling is one of the mostly used systems for forensic applications.In certain circumstances,STR profiling is time-consuming and costly,which potentially leads to delays in criminal investigations.LGC(Laboratory of the Government Chemist,UK)Forensics has developed a robust STR profiling platform called the ParaDNAVR Intelligence Test System which can provide early tactical intelligence and aid investigators in making informed decisions on sample prioritization for detection.Here,we validated the ParaDNA^(■) intelligence test for its application in forensic cases using a range of mock evidence items following guidelines set by the Scientific Working Group on DNA Analysis Methods(SWGDAM).Specifically,we tested the sensitivity and accuracy of the ParaDNA intelligence test,as well as the success rates for detecting mock samples and for use in case scenarios.Our findings demonstrate that the ParaDNA intelligence test generates useful DNA profiles,especially for samples such as blood,saliva,and semen that contain ample DNA,indicating the benefits of including ParaDNA as a prior step in forensic STR profiling pipelines.
基金This study was supported by the General Program of National Natural Science Foundation of China[grant number 81625013 and 81772028]the Shanghai Outstanding Academic Leaders Plan[grant number 2017485]the Shanghai Talent Development Funding[grant number 2017115].
文摘The Investigator 24plex QS Kit(QIAGEN,Hilden,Germany)is a 6-dye fluorescent chemistry short tandem repeat(STR)polymerase chain reaction(PCR)amplification system that simultaneously amplifies 20 of the expanded Combined DNA Index System(CODIS)core STR loci,SE33,DYS391,and the standard sex-determining locus,amelogenin,as well as two special internal performance quality sensor controls(QS1 and QS2),which are included in the primer mix to check the PCR performance.This study was designed to be a pilot evaluation of this STR-PCR kit in a Chinese Han population regarding the PCR conditions,sensitivity,precision,accuracy,repeatability,reproducibility,and concordance;tolerance to PCR inhibitors;applicability to real“forensic-type”samples;species specificity;mixture,balance and stutter analyses,and utility in a population investigation.The exhaustive validation studies demonstrated that the Investigator 24plex QS system is accurate,sensitive and robust for STR genotyping.In addition,these genetic markers in the population data in our study indicated that they can also be useful for forensic identification and paternity testing in the Chinese Han population.
基金supported by the Research Fund at the Shaanxi Provincial Science and Technology Department of China (No. 2018SF-375)Beijing Key Laboratory of Plastics Health and Safety Quality Evaluation Technology, Beijing Technology and Business University (No. TQETJP2018 004)。
文摘In recent years, poly(butylene adipate-co-terephthalate)(PBAT) has been widely used. However, PBAT-degrading bacteria have rarely been reported. PBAT-degrading bacteria were isolated from farmland soil and identified. The effects of growth factors on the degradation of PBAT and the lipase activity of PBAT-degrading bacteria were assessed. The degradation mechanism was analyzed using scanning electron microscopy, attenuated total reflection Fourier transform infrared spectroscopy, proton nuclear magnetic resonance, Xray diffraction, and liquid chromatography-mass spectrometry. The results showed that Stenotrophomonas sp. YCJ1 had a significant degrading effect on PBAT. Under certain conditions, the strain could secrete 10.53 U/m L of lipase activity and degrade 10.14 wt.% of PBAT films. The strain secreted lipase to catalyze the degradation of the ester bonds in PBAT, resulting in the production of degradation products such as terephthalic acid, 1,4-butanediol, and adipic acid. Furthermore, the degradation products could participate in the metabolism of YCJ1 as carbon sources to facilitate complete degradation of PBAT, indicating that the strain has potential value for the bioremediation of PBAT in the environment.
基金This study was supported by grants from the Ministry of Justice[grant number 20SFB4017]the Shanghai science and Technology Innovation Fund[grant number 19DZ2201400]State Administration for Market Regulation[grant number 2019MK139].
文摘Forensic science is crucial for the administration of justice and case investigation.in China,political-legal organizations,including the courts,public security,procuratorate,and judicial administration,developed their own forensic practices before 2004.As a result,the frequent and repeated appraisals undermined judicial authority and credibility.Thus,a law was published in 2005 to improve the uniform forensic management system by the Standing Committee of the National People’s Congress,leading to the establishment of the Forensic Administration of the Ministry of Justice in 2006.During this process,the increased accreditation and interflow highlighted the role of consensus in forensic standards for forensic service providers to avoid uncertainty regarding the methods used and interpretation of results.in 2017,a policy document was promulgated again to strengthen the importance of the uniform standards,which also proposed to establish a new national technical committee for the standardization of forensic science by the General Office of the State Council.in 2018,despite the continuing problems concerning uniformity,the Forensic Administration of the Ministry of Justice was merged into the Public Legal Services Administration.Yet,there is still a long way to go for the national technical committee for the standardization of forensic science.This paper analyses the evolution of forensic standards internationally and nationally,discusses the existing problems,and proposes relative solutions.Moreover,it discusses the future of standards development with the deepening of the reformation of both the national standardization and judicial system.
基金supported by grants from the General Program of National Natural Science Foundation of China[grant number 81772028]Foundation of Ministry of Justice[grant number GY2017D-2]Program of Shanghai Municipality[grant numbers 16DZ0501600 and 18DZ1200300].
文摘Dear Editor,Due to human’s cohabitation with domesticated animals,molecular analysis of animal DNA is increasingly being admitted as evidence in forensic investigations.In 2011,recommendations from the International Society of Forensic Genetics(ISFG)for non-human DNA analysis in forensic casework were published based on the successful model for human DNA[1].Among domesticated animals,canine DNA is perhaps the most often encountered and investigated in the forensic community[2–5].The US,Brazil and China are the top three countries in regards to ownership of canines.Canine DNA in the form of hair,saliva,blood,urine and feces is abundant in the domestic environment and consequently is often present on evidence collected during forensic investigations.A strong need for identity identification,parentage verification and breed recognition has become apparent within the forensic community.
基金This study was funded by National Natural Science Foundation of China[grant numbers 81772029 and 81572767]Priority Academic Program Development of Jiangsu Higher Education Institutions.
文摘Definitive diagnosis to sudden cardiac death(SCD)is often challenging since the postmortem examination on SCD victims could hardly demonstrate an adequate cause of death.It is therefore important to uncover the inherited risk component to SCD.Signal transducer and activators of transcription 5 A(STAT5A)is a member of the STAT family and a transcription factor that is activated by many cell ligands and associated with various cardiovascular processes.In this study,we performed a systematic variant screening on the STAT5A to filter potential functional genetic variations.Based on the screening results,an insertion/deletion polymorphism(rs3833144)in 3’UTR of STAT5A was selected as the candidate variant.A total of 159 SCD cases and 668 SCD matched healthy controls was enrolled to perform a case-control study and evaluate the association between rs3833144 and SCD susceptibility in Chinese populations.Logistic regression analysis showed that the deletion allele of rs3833144 had significantly increased the SCD risk(odds ratio(OR)=1.54;95%confidence interval(CI)=1.18-2.01;P=0.000955).Further genotype-expression eQTL analysis showed that samples with deletion allele appeared to lower expression of STAT5A,and in silico prediction suggested the local 3 D structure changes of STAT5A mRNA caused by the variant.On the other hand,the bioinformatic analysis presented that promoters of RARA and PTGES3L-AARSD1 could interact with rs3833144,and eQTL analysis showed the higher expression of both genes in samples with deletion allele.Dual-luciferase activity assays also suggested the significant regulatory role of rs3833144 in gene transcription.Our current data thus suggested a possible involvement of rs3833144 to SCD predisposition in Chinese populations and rs3833144 with potential function roles may become a candidate marker for SCD diagnosis and prevention.
基金supported by grants from the Shanghai Areas of Development for Society Planning Projects[grant number 19dz1200600]the National Natural Science Foundation of China[grant numbers 81930056 and 81625013]the National Youth Talent Support Program[grant number WRQB2019].
文摘Hallucinogenic mushroom is a kind of toxic strain containing psychoactive tryptamine substances such as psilocybin,psilocin and ibotenic acid,etc.The mushrooms containing hallucinogenic components are various,widely distributed and lack of standard to define,which made a great challenge to identification.Traditional identification methods,such as morphology and toxicology analysis,showed shortcomings in old or processed samples,while the DNA-based identification of hallucinogenic mushrooms would allow to identify these samples due to the stability of DNA.In this paper,four primer sets are designed to target Psilocybe cubensis DNA for increasing resolution of present identification method,and the target markers include largest subunit of RNA polymerase II(marked as PC-R1),psilocybin-related phosphotransferase gene(marked as PC-PT),glyceraldehyde 3-phosphate dehydrogenase(marked as PC-3)and translation EF1α(marked as PC-EF).Real-time PCR with high-resolution melting(HRM)assay were used for the differentiation of the fragments amplified by these primer sets,which were tested for specificity,reproducibility,sensitivity,mixture analysis and multiplex PCR.It was shown that the melting temperatures of PC-R1,PC-PT,PC-3 and PC-EF of P.cubensis were(87.93±0.12)℃,(82.21±0.14)℃,(79.72±0.12)℃ and(80.11±0.19)℃ in our kinds of independent experiments.Significant HRM characteristic can be shown with a low concentration of 62.5pg/µL DNA sample,and P.cubensis could be detected in mixtures with Homo sapiens or Cannabis sativa.In summary,the method of HRM analysis can quickly and specifically distinguish P.cubensis from other species,which could be utilized for forensic science,medical diagnosis and drug trafficking cases.
基金This study was supported by grants from the National Youth Top-notch Talent of Ten Thousand Program(WRQB2019)the Youth Science and Technology Innovation Leader of Ten Thousand Program(2018RA2102).
文摘Mutations might challenge the paternity index calculation in forensic identification.While many studies have focussed on the autosomal short tandem repeats(A-STR),the mutation status of sex chromosomes and single nucleotide polymorphism(SNP)remain blank.Next generation sequencing(NGS),known as high throughput and large sequence polymorphism,is a promising tool for forensic genetics.To describe the mutation landscapes in the paternity cases with genetic inconsistencies,a total of 63 parentage confirmed paternity cases contained at least one mismatched locus have been collected.The mutations were subsequently evaluated using Verogen’s MPSForenSeqTM DNASignature Kit and a microsatellite instability(MSI)detection kit.The result showed 98.41%(62/63)of the cases had no additional autosomal mutations even when the number of A-STRs increased to 27.As for the sex chromosomes,about 11.11%(7/63)of the cases exhibited either X-STR or Y-STR mutations.D2S1338,FGAand Penta Ewere the most frequent altered STRs,which suggested they might be the mutation hotspots.In addition,a male with sex chromosome abnormality was observed accidently,whose genotype might be 47,XXY,rather than MSI.Nearly 56.90%of the STR loci possessed isoalleles,which might result in higher STR polymorphisms.No Mendelian incompatibility was detected among the SNP markers,which indicated that SNP was a more reliable genetic marker in the genetic-inconsistent paternity cases.
基金supported by grants from the National Natu-ral Science Foundation of China[grant number 81330073],[grant number 81302620]the Ministry of Science and Technology of China[grant number 2016YFC0800703]the Science and Technology Commission of Shanghai Municipality[grant number 14DZ2270800].
文摘The custom-designed single nucleotide polymorphism(SNP)panel amplified 231 autosomal SNPs in one PCR reaction and subsequently sequenced with massively parallel sequencing(MPS)technology and Ion Torrent personal genome machine(PGM).SNPs were chosen from SNPforID,IISNP,HapMap,dbSNP,and related published literatures.Full concordance was obtained between available MPS calling and Sanger sequencing with 9947A and 9948 controls.Ten SNPs(rs4606077,rs334355,rs430046,rs2920816,rs4530059,rs1478829,rs1498553,rs7141285,rs12714757 and rs2189011)with low coverage or heterozygote imbalance should be optimized or excluded from the panel.Sequence data had sufficiently high coverage and gave reliable SNP calling for the remaining 221 loci with the custom MPS-SNP panel.A default DNA input amount of 10 ng per reaction was recommended by Ampliseq technology but sensitivity testing revealed positive results from as little as 1 ng input DNA.Mixture testing with this panel is possible through analysis of the F MAR(frequency of major allele reads)values at most loci with enough high coverage depth and low level of sequencing noise.These results indicate the potential advantage of the custom MPS-SNP assays and Ion Torrent PGM platform for forensic study.
文摘The Y-chromosomal short tandem repeat polymorphisms(Y-STRs)are the male-specific markers.The characteristics of paternal lineages make it a valuable tool for tracing familial relationships[1-3].Y-STR analysis has been widely used for identifying genealogical DNA testing and to identify missing persons,assess paternal relationships,and investigate sexual assault cases[4,5].
基金supported by the National Key R&D Program of China[grant number 2016YFC0800703]the National Natural Science Fund for Distinguished Young Scholars[grant number 81625013]+2 种基金the Standard Program of Shanghai Municipality[grant number 16DZ0501600]the Public Interest Research Grant Program of National Research Institutes[grant number GY2017D-2]General Program of National Natural Science Foundation of China.
文摘Dear Editor,Short tandem repeats(STRs),polymorphic DNA regions with a variable number of repeated units(2–6 base pairs),are attractive to forensic applications such as human identification and parentage testing[1].Nowadays,most of the commercial STR kits are designed based on STRs from the combined DNA index system(CODIS),European Standard Set(ESS),expanded CODIS,and extended ESS[2].In this study,we evaluated 21 STRs from GoldeneyeTM DNA ID 22NC kit(PeopleSpot Inc.,Beijing,China),which including 20 polymorphic non-CODIS STR loci(i.e.D1S1656,D2S441,D3S1744,D3S3045,D4S2366,D5S2500,D6S477,D7S1517,D7S3048,D8S1132,D10S1248,D10S1435,D11S2368,D13S325,D14S608,D15S659,D17S1290,D18S535,D19S253,D22GATA198B05)and a CODIS STR locus(D3S1358),in five ethnic groups(i.e.Eastern Han,Ningxia Hui,Xinjiang Uygur,Xizang Tibetan,and Inner Mongolia Mongolian)of China.The forensic genetic investigation of above loci may provide more genetic information in complex kinship testing and population studies[3,4].
文摘Like other subjects, forensic genetics gradually emerged and developed through long-term social practice.Following the discovery of the ABO blood groups by Landsteiner in 1900 [1], human blood type was used in identification, and forensic genetics entered the scientific age.In 1910, the French criminologist Edmond Locard proposed the Locard's exchange principle [2] and stated that "every contact leaves a trace," which laid the foundation for modern forensic science.In 1926, Thomas Hunt Morgan [3] proposed a theory of genes, which provided the basis for the development of forensic genetics.In 1953, the discovery of the double-helical structure of DNA enabled the start of forensic genetics research at the molecular level [3].