The typical characteristic of the topology of Bayesian networks (BNs) is the interdependence among different nodes (variables), which makes it impossible to optimize one variable independently of others, and the learn...The typical characteristic of the topology of Bayesian networks (BNs) is the interdependence among different nodes (variables), which makes it impossible to optimize one variable independently of others, and the learning of BNs structures by general genetic algorithms is liable to converge to local extremum. To resolve efficiently this problem, a self-organizing genetic algorithm (SGA) based method for constructing BNs from databases is presented. This method makes use of a self-organizing mechanism to develop a genetic algorithm that extended the crossover operator from one to two, providing mutual competition between them, even adjusting the numbers of parents in recombination (crossover/recomposition) schemes. With the K2 algorithm, this method also optimizes the genetic operators, and utilizes adequately the domain knowledge. As a result, with this method it is able to find a global optimum of the topology of BNs, avoiding premature convergence to local extremum. The experimental results proved to be and the convergence of the SGA was discussed.展开更多
BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,an...BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.展开更多
Insertional mutation,phenotypic evaluation,and mutated gene cloning are widely used to clone genes from scratch.Exogenous genes can be integrated into the genome during non-homologous end joining(NHEJ)of the double-st...Insertional mutation,phenotypic evaluation,and mutated gene cloning are widely used to clone genes from scratch.Exogenous genes can be integrated into the genome during non-homologous end joining(NHEJ)of the double-strand breaks of DNA,causing insertional mutation.The random insertional mutant library constructed using this method has become a method of forward genetics for gene cloning.However,the establishment of a random insertional mutant library requires a high transformation efficiency of exogenous genes.Many microalgal species show a low transformation efficiency,making constructing random insertional mutant libraries difficult.In this study,we established a highly efficient transformation method for constructing a random insertional mutant library of Nannochloropsis oceanica,and tentatively tried to isolate its genes to prove the feasibility of the method.A gene that may control the growth rate and cell size was identified.This method will facilitate the genetic studies of N.oceanica,which should also be a reference for other microalgal species.展开更多
The EU’s Artificial Intelligence Act(AI Act)imposes requirements for the privacy compliance of AI systems.AI systems must comply with privacy laws such as the GDPR when providing services.These laws provide users wit...The EU’s Artificial Intelligence Act(AI Act)imposes requirements for the privacy compliance of AI systems.AI systems must comply with privacy laws such as the GDPR when providing services.These laws provide users with the right to issue a Data Subject Access Request(DSAR).Responding to such requests requires database administrators to identify information related to an individual accurately.However,manual compliance poses significant challenges and is error-prone.Database administrators need to write queries through time-consuming labor.The demand for large amounts of data by AI systems has driven the development of NoSQL databases.Due to the flexible schema of NoSQL databases,identifying personal information becomes even more challenging.This paper develops an automated tool to identify personal information that can help organizations respond to DSAR.Our tool employs a combination of various technologies,including schema extraction of NoSQL databases and relationship identification from query logs.We describe the algorithm used by our tool,detailing how it discovers and extracts implicit relationships from NoSQL databases and generates relationship graphs to help developers accurately identify personal data.We evaluate our tool on three datasets,covering different database designs,achieving an F1 score of 0.77 to 1.Experimental results demonstrate that our tool successfully identifies information relevant to the data subject.Our tool reduces manual effort and simplifies GDPR compliance,showing practical application value in enhancing the privacy performance of NOSQL databases and AI systems.展开更多
Population genomic data could provide valuable information for conservation efforts;however,limited studies have been conducted to investigate the genetic status of threatened pheasants.Reeves’s Pheasant(Syrmaticus r...Population genomic data could provide valuable information for conservation efforts;however,limited studies have been conducted to investigate the genetic status of threatened pheasants.Reeves’s Pheasant(Syrmaticus reevesii)is facing population decline,attributed to increases in habitat loss.There is a knowledge gap in understanding the genomic status and genetic basis underlying the local adaptation of this threatened bird.Here,we used population genomic data to assess population structure,genetic diversity,inbreeding patterns,and genetic divergence.Furthermore,we identified candidate genes linked with adaptation across the current distribution of Reeves’s Pheasant.The present study assembled the first de novo genome sequence of Reeves’s Pheasant and annotated 19,458 genes.We also sequenced 30 individuals from three populations(Dabie Mountain,Shennongjia,Qinling Mountain)and found that there was clear population structure among those populations.By comparing with other threatened species,we found that Reeves’s Pheasants have low genetic diversity.Runs of homozygosity suggest that the Shennongjia population has experienced serious inbreeding.The demographic history results indicated that three populations experienced several declines during the glacial period.Local adaptative analysis among the populations identified 241 candidate genes under directional selection.They are involved in a large variety of processes,including the immune response and pigmentation.Our results suggest that the three populations should be considered as three different conservation units.The current study provides genetic evidence for conserving the threatened Reeves’s Pheasant and provides genomic resources for global biodiversity management.展开更多
Analysis of genetic main effects and genotype x environment (GE) interaction effects for brown rice weight (BRW) at four different filling stages in indica lice (Oryza sativa L.) was conducted for two-year experimenta...Analysis of genetic main effects and genotype x environment (GE) interaction effects for brown rice weight (BRW) at four different filling stages in indica lice (Oryza sativa L.) was conducted for two-year experimental data by using developmental genetic models and corresponding statistical approaches for quantitative traits of seeds in cereal crops. It was indicated that the genetic main effects and their GE interaction effects of triploid endosperm, cytoplasmic and diploid maternal plant genes were important for BRW at different filling stages of rice, especially for endosperm or maternal additive main effects and their additive interaction effects. Because of the higher additive effects and additive interaction effects for BRW at different filling stages, the better improving effects for this trait could be expected by selection in rice breeding. The results of conditional genetic variance components showed that the new expression of quantitative genes in endosperm and maternal plant for BRW was mostly found at all different filling stages of rice. The gene expression, however, was most active at the early filling stages especially for the first (1-7 d) and the second filling stages (8-14 d after flowering). The phenomena that some genes were spasmodically expressible among filling stages of rice were detected for some genetic effects especially for net cytoplasmic main effects or its interaction effects and net dominance main effects. Predicted genetic effects at different filling stages of rice showed that some parents such as V20 and Zuo 5 were better than others for improving the BRW.展开更多
Accurate prediction of the movement trajectory of sea surface targets holds significant importance in achieving an advantageous position in the sea battle field.This prediction plays a crucial role in ensuring securit...Accurate prediction of the movement trajectory of sea surface targets holds significant importance in achieving an advantageous position in the sea battle field.This prediction plays a crucial role in ensuring security defense and confrontation,and is essential for effective deployment of military strategy.Accurately predicting the trajectory of sea surface targets using AIS(Automatic Identification System)information is crucial for security defense and confrontation,and holds significant importance for military strategy deployment.In response to the problem of insufficient accuracy in ship trajectory prediction,this study proposes a hybrid genetic algorithm to optimize the Long Short-Term Memory(LSTM)algorithm.The HGA-LSTM algorithm is proposed for ship trajectory prediction.It can converge faster and obtain better parameter solutions,thereby improving the effectiveness of ship trajectory prediction.Compared to traditional LSTM and GA-LSTM algorithms,experimental results demonstrate that this algorithm outperforms them in both single-step and multi-step prediction.展开更多
Multidrug-resistant(MDR)Enterobacteriaceae critically threaten duck farming and public health.The phenotypes,genotypes,and associated mobile genetic elements(MGEs)of MDR Enterobacteriaceae isolated from 6 duck farms i...Multidrug-resistant(MDR)Enterobacteriaceae critically threaten duck farming and public health.The phenotypes,genotypes,and associated mobile genetic elements(MGEs)of MDR Enterobacteriaceae isolated from 6 duck farms in Zhejiang Province,China,were investigated.A total of 215 isolates were identified as Escherichia coli(64.65%),Klebsiella pneumoniae(12.09%),Proteus mirabilis(10.23%),Salmonella(8.84%),and Enterobacter cloacae(4.19%).Meanwhile,all isolates were resistant to at least two antibiotics.Most isolates carried tet(A)(85.12%),blaTEM(78.60%)and sul1(67.44%)resistance genes.Gene co-occurrence analysis showed that the resistance genes were associated with IS26 and integrons.A conjugative IncFII plasmid pSDM004 containing all the above MGEs was detected in Proteus mirabilis isolate SDM004.This isolate was resistant to 18 antibiotics and carried the blaNDM-5 gene.MGEs,especially plasmids,are the primary antibiotic resistance gene transmission route in duck farms.These findings provide a theoretical basis for the rational use of antibiotics in farms which are substantial for evaluating public health and food safety.展开更多
This editorial discusses the article written by Tchilikidi et al that was published in the latest edition of the World Journal of Gastrointestinal Surgery.Genetic and molecular profiling of perihilar cholangiocarcinom...This editorial discusses the article written by Tchilikidi et al that was published in the latest edition of the World Journal of Gastrointestinal Surgery.Genetic and molecular profiling of perihilar cholangiocarcinoma(pCCA)has identified a number of key abnormalities that drive tumor growth and spread,including pyruvate kinase M2,proline rich 11,and transcription factor 7,etc.pCCA has specific genetic and molecular features that can be used to develop personalized treatment plans.Personalized treatment approaches offer new opportunities for effectively targeting the underlying drivers of tumor growth and progression.The findings based on tumor genetic and molecular characteristics highlight the importance of developing personalized treatment strategies.展开更多
The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics...The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics is suggested. I propose and define the soft-genes of genetics controlling the processes of heredity or inheritance of genes. This research deals with the quantum mechanisms of Mendel plant heredity and family inheritance as examples of bio-quantum genetics, deepening our understanding of heredity or inheritance. I believe that more contributions will be made to promote researches of bio-quantum genetics or quantum biology at large.展开更多
Inflammatory bowel diseases (IBD) are complex multifactorial disorders that include Crohn’s disease (CD) and ulcerative colitis (UC). Considering that IBD is a genetic and multifactorial disease, we screened for the ...Inflammatory bowel diseases (IBD) are complex multifactorial disorders that include Crohn’s disease (CD) and ulcerative colitis (UC). Considering that IBD is a genetic and multifactorial disease, we screened for the distribution dynamism of IBD pathogenic genetic variants (single nucleotide polymorphisms;SNPs) and risk factors in four (4) IBD pediatric patients, by integrating both clinical exome sequencing and computational statistical approaches, aiming to categorize IBD patients in CD and UC phenotype. To this end, we first aligned genomic read sequences of these IBD patients to hg19 human genome by using bowtie 2 package. Next, we performed genetic variant calling analysis in terms of single nucleotide polymorphism (SNP) for genes covered by at least 20 read genomic sequences. Finally, we checked for biological and genomic functions of genes exhibiting statistically significant genetic variant (SNPs) by introducing Fitcon genomic parameter. Findings showed Fitcon parameter as normalizing IBD patient’s population variability, as well as inducing a relative good clustering between IBD patients in terms of CD and UC phenotypes. Genomic analysis revealed a random distribution of risk factors and as well pathogenic SNPs genetic variants in the four IBD patient’s genome, claiming to be involved in: i) Metabolic disorders, ii) Autoimmune deficiencies;iii) Crohn’s disease pathways. Integration of genomic and computational statistical analysis supported a relative genetic variability regarding IBD patient population by processing IBD pathogenic SNP genetic variants as opposite to IBD risk factor variants. Interestingly, findings clearly allowed categorizing IBD patients in CD and UC phenotypes by applying Fitcon parameter in selecting IBD pathogenic genetic variants. Considering as a whole, the study suggested the efficiency of integrating clinical exome sequencing and computational statistical tools as a right approach in discriminating IBD phenotypes as well as improving inflammatory bowel disease (IBD) molecular diagnostic process.展开更多
In the process of teaching medical genetics of undergraduate clinical medicine, the practice and exploration of applying EBM to the bilingual teaching of OSBCM medical genetics are carried out. Using CBL and PBL as th...In the process of teaching medical genetics of undergraduate clinical medicine, the practice and exploration of applying EBM to the bilingual teaching of OSBCM medical genetics are carried out. Using CBL and PBL as the carrier can make up for the shortcomings of a single teaching mode, synthesize the advantages of multiple teaching modes. It starts from integrating the basic theoretical knowledge of medicine and clinical practice knowledge, improving students’ bilingual level of medical genetics, cultivating students’ literature retrieval ability, and promoting early clinical, multi-clinical and repeated clinical consciousness for medical students. Therefore, it is more conducive to cultivate students’ ability to learn independently, accurately analyze and solve problems, improve medical students’ clinical thinking ability and scientific research awareness, improve medical students’ ability of international communication, and lay a solid foundation for improving medical students’ future post competence, innovative spirit and lifelong learning ability.展开更多
The replacement of winter wheat varieties has contributed significantly to yield improvement worldwide,with remarkable progress in China.Drawing on two sets of data,production yield from the National Bureau of Statist...The replacement of winter wheat varieties has contributed significantly to yield improvement worldwide,with remarkable progress in China.Drawing on two sets of data,production yield from the National Bureau of Statistics of China and experimental yield from literature,this study aims to(1)illustrate the increasing patterns of production yield among different provinces from 1978 to 2018 in China,(2)explore the genetic gain in yield and yield relevant traits through the variety replacement based on experimental yield from 1937 to 2016 in China,and(3)compare the yield gap between experimental yield and production yield.The results show that both the production and experimental yields significantly increased along with the variety replacement.The national annual yield increase ratio for the production yield was 1.67%from 1978 to 2018,varying from 0.96%in Sichuan Province to 2.78%in Hebei Province;such ratio for the experimental yield was 1.13%from 1937 to 2016.The yield gap between experimental and production yields decreased from the 1970s to the 2010s.This study reveals significant increases in some yield components consequent to variety replacement,including thousand-grain weight,kernel number per spike,and grain number per square meter;however,no change is shown in spike number per square meter.The biomass and harvest index consistently and significantly increased,whereas the plant height decreased significantly.展开更多
In China, the vast majority of the bibliographic databases is commercial, such as China National Knowledge Infrastructure (CNKI), Wanfang Database, Longyuan Journal Net, CQVIP Company, however, there are also non-pr...In China, the vast majority of the bibliographic databases is commercial, such as China National Knowledge Infrastructure (CNKI), Wanfang Database, Longyuan Journal Net, CQVIP Company, however, there are also non-profit open access (OA) databases, such as journal database jointly established by Chinese Academy of Social Sciences (CASS) and National Social Science Fund. The commercial bibliographic databases have to face many difficulties: intellectual property disputes, the benefit distribution between the hardcopy periodical and the commercial bibliographic database, the lack of quality assessment about the commercial bibliographic databases, the need of improving digital technology as well as the lack of a unified database regulation, which restricts the development of commercial bibliographic databases. This paper puts forward the countermeasures from the perspective of how to enhance the governmental management; how to protect the intellectual property fight; how to improve the technical standard of the commercial bibliographic databases; how to build interest distribution between the hardcopy periodical and the commercial bibliographic database; how to improve the quality of commercial bibliographic databases; and how to improve the industrial chain of the commercial bibliographic databases.展开更多
Endangered species generally have small populations with low genetic diversity and a high genetic load.Thuja sutchuenensis is an endangered conifer endemic to southwestern China.It was once considered extinct in the w...Endangered species generally have small populations with low genetic diversity and a high genetic load.Thuja sutchuenensis is an endangered conifer endemic to southwestern China.It was once considered extinct in the wild,but in 1999 was rediscovered.However,little is known about its genetic load.We collected 67 individuals from five wild,isolated T.sutchuenensis populations,and used 636,151 SNPs to analyze the level of genetic diversity and genetic load in T.sutchuenensis to delineate the conservation units of T.sutchuenensis,based on whole transcriptome sequencing data,as well as target capture sequencing data.We found that populations of T.sutchuenensis could be divided into three groups.These groups had low levels genetic diversity and were moderately genetically differentiated.Our findings also indicate that T.sutchuenensis suffered two severe bottlenecks around the Last Glaciation Period and Last Glacial Maximum.Among Thuja species,T.sutchuenensis presented the lowest genetic load and hence might have purged deleterious mutations efficiently through purifying selection.However,distribution of fitness effects analysis indicated a high extinction risk for T.sutchuenensis.Multiple lines of evidence identified three management units for T.sutchuenensis.Although T.sutchuenensis possesses a low genetic load,low genetic diversity,suboptimal fitness,and anthropogenic pressures all present an extinction risk for this rare conifer.This might also hold true for many endangered plant species in the mountains all over the world.展开更多
Traditional transgenic detection methods require high test conditions and struggle to be both sensitive and efficient.In this study,a one-tube dual recombinase polymerase amplification(RPA)reaction system for CP4-EPSP...Traditional transgenic detection methods require high test conditions and struggle to be both sensitive and efficient.In this study,a one-tube dual recombinase polymerase amplification(RPA)reaction system for CP4-EPSPS and Cry1Ab/Ac was proposed and combined with a lateral flow immunochromatographic assay,named“Dual-RPA-LFD”,to visualize the dual detection of genetically modified(GM)crops.In which,the herbicide tolerance gene CP4-EPSPS and the insect resistance gene Cry1Ab/Ac were selected as targets taking into account the current status of the most widespread application of insect resistance and herbicide tolerance traits and their stacked traits.Gradient diluted plasmids,transgenic standards,and actual samples were used as templates to conduct sensitivity,specificity,and practicality assays,respectively.The constructed method achieved the visual detection of plasmid at levels as low as 100 copies,demonstrating its high sensitivity.In addition,good applicability to transgenic samples was observed,with no cross-interference between two test lines and no influence from other genes.In conclusion,this strategy achieved the expected purpose of simultaneous detection of the two popular targets in GM crops within 20 min at 37°C in a rapid,equipmentfree field manner,providing a new alternative for rapid screening for transgenic assays in the field.展开更多
Eighty-five pomegranate (Punica granatum L.) cultivars from six geographical populations located at Shandong, Anhui, Shaanxi, Henan, Yunnan, and Xinjiang Provinces were studied for its population genetic diversity b...Eighty-five pomegranate (Punica granatum L.) cultivars from six geographical populations located at Shandong, Anhui, Shaanxi, Henan, Yunnan, and Xinjiang Provinces were studied for its population genetic diversity by means of fluorescent-AFLP markers. The results indicated that 135-185 polymorphic loci were amplified by eight pairs of primers at species level. An average of 158.25 polymorphic loci was amplified for each primer combination. The polymorphism percentage ranged from 62.5% to 86.11%, and the average polymorphism percentage was 73.26%. This indicated that there was plentiful genetic diversity in pomegranate cultivars. The genetic diversity at the species level was higher than that at the population level. The order of the genetic diversity was Henan population 〉 Xinjiang population 〉 Shaanxi population 〉 Anhui population 〉 Shandong population 〉 Yunnan population. Variance analysis showed that there was significant difference between populations in genetic diversity. The genetic differentiation coefficient between populations (Gsr) was 0.2018, which indicated that gene differentiation was mainly within the population, and between populations, it accounted for 20.18% of the total variation. Gene flow (Nm) between the populations measured was 1.9027 based on the genetic differentiation coefficient between populations, indicating that there was mild gene flow between populations. The UPGMA cluster analysis showed that most accessions from the same population were clustered together, but there was partly gene exchange. All genetic parameters indicated that there was plentiful genetic diversity in pomegranate cultivars in China, of which Henan population was significantly higher than the other populations, and it had wide application foreground in pomegranate breeding in China.展开更多
To reduce the cost and increase the efficiency of plant genetic marker fingerprinting for variety discrimination,it is desirable to identify the optimal marker combinations.We describe a marker combination screening m...To reduce the cost and increase the efficiency of plant genetic marker fingerprinting for variety discrimination,it is desirable to identify the optimal marker combinations.We describe a marker combination screening model based on the genetic algorithm(GA)and implemented in a software tool,Loci Scan.Ratio-based variety discrimination power provided the largest optimization space among multiple fitness functions.Among GA parameters,an increase in population size and generation number enlarged optimization depth but also calculation workload.Exhaustive algorithm afforded the same optimization depth as GA but vastly increased calculation time.In comparison with two other software tools,Loci Scan accommodated missing data,reduced calculation time,and offered more fitness functions.In large datasets,the sample size of training data exerted the strongest influence on calculation time,whereas the marker size of training data showed no effect,and target marker number had limited effect on analysis speed.展开更多
Pineapple,a popular tropical fruit with diverse culinary and health applications,has gained significant attention due to its economic importance,health benefits,and scientific exploration.Abiotic stress has been shown to...Pineapple,a popular tropical fruit with diverse culinary and health applications,has gained significant attention due to its economic importance,health benefits,and scientific exploration.Abiotic stress has been shown to have detrimental effects on physiological aspects of pineapple,such as photosynthesis rate and internal browning.However,physical and physiological parameters are inadequate in providing accurate assessment,early detection,and enabling marker-assisted breeding for pineapple under abiotic stress.Genetic markers provide valuable insights into plant defense mechanisms and stress tolerance,enabling the identification of key genes and pathways involved.The aim of this review was to discuss the potential of genetic markers as a reliable tool for studying abiotic stress in pineapple.It focuses on genes involved in stress response and their utility as genetic markers,while also discussing physiological changes.The responsiveness of several gene families,including CPK,CBL,CYS,Dof,TALE,SBP,WRKY,ZIP,R2R3-MYB,and DREB,to abiotic stress has been known before.Therefore,harnessing the potential of these genes can yield valuable insights for comprehending and effectively managing abiotic stress in pineapple.A comprehensive understanding of the genetic response to abiotic stress in pineapple is essential for enhancing agricultural productivity and developing stress-resistant varieties.展开更多
We have developed a dual base editor,rA&GBE,by fusing adenine and glycosylase base editors.It can induce up to eight types of mutations in T0-generation rice,including single-base conversion,simultaneous multiple-...We have developed a dual base editor,rA&GBE,by fusing adenine and glycosylase base editors.It can induce up to eight types of mutations in T0-generation rice,including single-base conversion,simultaneous multiple-base conversions,and InDels,using a single guide RNA.A-to-G and C-to-G/T conversions occur simultaneously on the same DNA strand.The rA&GBE system may prove useful for crop improvement and in planta direct evolution.展开更多
文摘The typical characteristic of the topology of Bayesian networks (BNs) is the interdependence among different nodes (variables), which makes it impossible to optimize one variable independently of others, and the learning of BNs structures by general genetic algorithms is liable to converge to local extremum. To resolve efficiently this problem, a self-organizing genetic algorithm (SGA) based method for constructing BNs from databases is presented. This method makes use of a self-organizing mechanism to develop a genetic algorithm that extended the crossover operator from one to two, providing mutual competition between them, even adjusting the numbers of parents in recombination (crossover/recomposition) schemes. With the K2 algorithm, this method also optimizes the genetic operators, and utilizes adequately the domain knowledge. As a result, with this method it is able to find a global optimum of the topology of BNs, avoiding premature convergence to local extremum. The experimental results proved to be and the convergence of the SGA was discussed.
基金Supported by Science and Technology Development Plan Project of Weifang,No.2023YX005。
文摘BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.
基金the National Key R&D Program of China(Nos.2018YFD0901506,2018YFD0900305)the Marine S&T Fund of Shandong Province for Pilot National Laboratory for Marine Science and Technology(Qingdao)(No.2018 SDKJ0406-3)。
文摘Insertional mutation,phenotypic evaluation,and mutated gene cloning are widely used to clone genes from scratch.Exogenous genes can be integrated into the genome during non-homologous end joining(NHEJ)of the double-strand breaks of DNA,causing insertional mutation.The random insertional mutant library constructed using this method has become a method of forward genetics for gene cloning.However,the establishment of a random insertional mutant library requires a high transformation efficiency of exogenous genes.Many microalgal species show a low transformation efficiency,making constructing random insertional mutant libraries difficult.In this study,we established a highly efficient transformation method for constructing a random insertional mutant library of Nannochloropsis oceanica,and tentatively tried to isolate its genes to prove the feasibility of the method.A gene that may control the growth rate and cell size was identified.This method will facilitate the genetic studies of N.oceanica,which should also be a reference for other microalgal species.
基金supported by the National Natural Science Foundation of China(No.62302242)the China Postdoctoral Science Foundation(No.2023M731802).
文摘The EU’s Artificial Intelligence Act(AI Act)imposes requirements for the privacy compliance of AI systems.AI systems must comply with privacy laws such as the GDPR when providing services.These laws provide users with the right to issue a Data Subject Access Request(DSAR).Responding to such requests requires database administrators to identify information related to an individual accurately.However,manual compliance poses significant challenges and is error-prone.Database administrators need to write queries through time-consuming labor.The demand for large amounts of data by AI systems has driven the development of NoSQL databases.Due to the flexible schema of NoSQL databases,identifying personal information becomes even more challenging.This paper develops an automated tool to identify personal information that can help organizations respond to DSAR.Our tool employs a combination of various technologies,including schema extraction of NoSQL databases and relationship identification from query logs.We describe the algorithm used by our tool,detailing how it discovers and extracts implicit relationships from NoSQL databases and generates relationship graphs to help developers accurately identify personal data.We evaluate our tool on three datasets,covering different database designs,achieving an F1 score of 0.77 to 1.Experimental results demonstrate that our tool successfully identifies information relevant to the data subject.Our tool reduces manual effort and simplifies GDPR compliance,showing practical application value in enhancing the privacy performance of NOSQL databases and AI systems.
基金supported by the Biodiversity Survey,Monitoring and Assessment Project(2019–2023)of the Ministry of Ecology and EnvironmentChina(No.2019HB2096001006 to ZZ)+2 种基金the National Natural Science Foundation of China(31672319)Endangered Species Scientific Commission of China(No.2022–331)supported by the China Scholarship Council,China。
文摘Population genomic data could provide valuable information for conservation efforts;however,limited studies have been conducted to investigate the genetic status of threatened pheasants.Reeves’s Pheasant(Syrmaticus reevesii)is facing population decline,attributed to increases in habitat loss.There is a knowledge gap in understanding the genomic status and genetic basis underlying the local adaptation of this threatened bird.Here,we used population genomic data to assess population structure,genetic diversity,inbreeding patterns,and genetic divergence.Furthermore,we identified candidate genes linked with adaptation across the current distribution of Reeves’s Pheasant.The present study assembled the first de novo genome sequence of Reeves’s Pheasant and annotated 19,458 genes.We also sequenced 30 individuals from three populations(Dabie Mountain,Shennongjia,Qinling Mountain)and found that there was clear population structure among those populations.By comparing with other threatened species,we found that Reeves’s Pheasants have low genetic diversity.Runs of homozygosity suggest that the Shennongjia population has experienced serious inbreeding.The demographic history results indicated that three populations experienced several declines during the glacial period.Local adaptative analysis among the populations identified 241 candidate genes under directional selection.They are involved in a large variety of processes,including the immune response and pigmentation.Our results suggest that the three populations should be considered as three different conservation units.The current study provides genetic evidence for conserving the threatened Reeves’s Pheasant and provides genomic resources for global biodiversity management.
文摘Analysis of genetic main effects and genotype x environment (GE) interaction effects for brown rice weight (BRW) at four different filling stages in indica lice (Oryza sativa L.) was conducted for two-year experimental data by using developmental genetic models and corresponding statistical approaches for quantitative traits of seeds in cereal crops. It was indicated that the genetic main effects and their GE interaction effects of triploid endosperm, cytoplasmic and diploid maternal plant genes were important for BRW at different filling stages of rice, especially for endosperm or maternal additive main effects and their additive interaction effects. Because of the higher additive effects and additive interaction effects for BRW at different filling stages, the better improving effects for this trait could be expected by selection in rice breeding. The results of conditional genetic variance components showed that the new expression of quantitative genes in endosperm and maternal plant for BRW was mostly found at all different filling stages of rice. The gene expression, however, was most active at the early filling stages especially for the first (1-7 d) and the second filling stages (8-14 d after flowering). The phenomena that some genes were spasmodically expressible among filling stages of rice were detected for some genetic effects especially for net cytoplasmic main effects or its interaction effects and net dominance main effects. Predicted genetic effects at different filling stages of rice showed that some parents such as V20 and Zuo 5 were better than others for improving the BRW.
文摘Accurate prediction of the movement trajectory of sea surface targets holds significant importance in achieving an advantageous position in the sea battle field.This prediction plays a crucial role in ensuring security defense and confrontation,and is essential for effective deployment of military strategy.Accurately predicting the trajectory of sea surface targets using AIS(Automatic Identification System)information is crucial for security defense and confrontation,and holds significant importance for military strategy deployment.In response to the problem of insufficient accuracy in ship trajectory prediction,this study proposes a hybrid genetic algorithm to optimize the Long Short-Term Memory(LSTM)algorithm.The HGA-LSTM algorithm is proposed for ship trajectory prediction.It can converge faster and obtain better parameter solutions,thereby improving the effectiveness of ship trajectory prediction.Compared to traditional LSTM and GA-LSTM algorithms,experimental results demonstrate that this algorithm outperforms them in both single-step and multi-step prediction.
基金supported by the National Natural Science Foundation of China(32172188)Science and Technology Cooperation Project of ZheJiang Province(2023SNJF058-3)。
文摘Multidrug-resistant(MDR)Enterobacteriaceae critically threaten duck farming and public health.The phenotypes,genotypes,and associated mobile genetic elements(MGEs)of MDR Enterobacteriaceae isolated from 6 duck farms in Zhejiang Province,China,were investigated.A total of 215 isolates were identified as Escherichia coli(64.65%),Klebsiella pneumoniae(12.09%),Proteus mirabilis(10.23%),Salmonella(8.84%),and Enterobacter cloacae(4.19%).Meanwhile,all isolates were resistant to at least two antibiotics.Most isolates carried tet(A)(85.12%),blaTEM(78.60%)and sul1(67.44%)resistance genes.Gene co-occurrence analysis showed that the resistance genes were associated with IS26 and integrons.A conjugative IncFII plasmid pSDM004 containing all the above MGEs was detected in Proteus mirabilis isolate SDM004.This isolate was resistant to 18 antibiotics and carried the blaNDM-5 gene.MGEs,especially plasmids,are the primary antibiotic resistance gene transmission route in duck farms.These findings provide a theoretical basis for the rational use of antibiotics in farms which are substantial for evaluating public health and food safety.
文摘This editorial discusses the article written by Tchilikidi et al that was published in the latest edition of the World Journal of Gastrointestinal Surgery.Genetic and molecular profiling of perihilar cholangiocarcinoma(pCCA)has identified a number of key abnormalities that drive tumor growth and spread,including pyruvate kinase M2,proline rich 11,and transcription factor 7,etc.pCCA has specific genetic and molecular features that can be used to develop personalized treatment plans.Personalized treatment approaches offer new opportunities for effectively targeting the underlying drivers of tumor growth and progression.The findings based on tumor genetic and molecular characteristics highlight the importance of developing personalized treatment strategies.
文摘The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics is suggested. I propose and define the soft-genes of genetics controlling the processes of heredity or inheritance of genes. This research deals with the quantum mechanisms of Mendel plant heredity and family inheritance as examples of bio-quantum genetics, deepening our understanding of heredity or inheritance. I believe that more contributions will be made to promote researches of bio-quantum genetics or quantum biology at large.
文摘Inflammatory bowel diseases (IBD) are complex multifactorial disorders that include Crohn’s disease (CD) and ulcerative colitis (UC). Considering that IBD is a genetic and multifactorial disease, we screened for the distribution dynamism of IBD pathogenic genetic variants (single nucleotide polymorphisms;SNPs) and risk factors in four (4) IBD pediatric patients, by integrating both clinical exome sequencing and computational statistical approaches, aiming to categorize IBD patients in CD and UC phenotype. To this end, we first aligned genomic read sequences of these IBD patients to hg19 human genome by using bowtie 2 package. Next, we performed genetic variant calling analysis in terms of single nucleotide polymorphism (SNP) for genes covered by at least 20 read genomic sequences. Finally, we checked for biological and genomic functions of genes exhibiting statistically significant genetic variant (SNPs) by introducing Fitcon genomic parameter. Findings showed Fitcon parameter as normalizing IBD patient’s population variability, as well as inducing a relative good clustering between IBD patients in terms of CD and UC phenotypes. Genomic analysis revealed a random distribution of risk factors and as well pathogenic SNPs genetic variants in the four IBD patient’s genome, claiming to be involved in: i) Metabolic disorders, ii) Autoimmune deficiencies;iii) Crohn’s disease pathways. Integration of genomic and computational statistical analysis supported a relative genetic variability regarding IBD patient population by processing IBD pathogenic SNP genetic variants as opposite to IBD risk factor variants. Interestingly, findings clearly allowed categorizing IBD patients in CD and UC phenotypes by applying Fitcon parameter in selecting IBD pathogenic genetic variants. Considering as a whole, the study suggested the efficiency of integrating clinical exome sequencing and computational statistical tools as a right approach in discriminating IBD phenotypes as well as improving inflammatory bowel disease (IBD) molecular diagnostic process.
文摘In the process of teaching medical genetics of undergraduate clinical medicine, the practice and exploration of applying EBM to the bilingual teaching of OSBCM medical genetics are carried out. Using CBL and PBL as the carrier can make up for the shortcomings of a single teaching mode, synthesize the advantages of multiple teaching modes. It starts from integrating the basic theoretical knowledge of medicine and clinical practice knowledge, improving students’ bilingual level of medical genetics, cultivating students’ literature retrieval ability, and promoting early clinical, multi-clinical and repeated clinical consciousness for medical students. Therefore, it is more conducive to cultivate students’ ability to learn independently, accurately analyze and solve problems, improve medical students’ clinical thinking ability and scientific research awareness, improve medical students’ ability of international communication, and lay a solid foundation for improving medical students’ future post competence, innovative spirit and lifelong learning ability.
基金This research was financially supported by the Natural Science Basic Research Program of Shaanxi,China(2022JM-126)the National Natural Science Foundation of China(52079132).
文摘The replacement of winter wheat varieties has contributed significantly to yield improvement worldwide,with remarkable progress in China.Drawing on two sets of data,production yield from the National Bureau of Statistics of China and experimental yield from literature,this study aims to(1)illustrate the increasing patterns of production yield among different provinces from 1978 to 2018 in China,(2)explore the genetic gain in yield and yield relevant traits through the variety replacement based on experimental yield from 1937 to 2016 in China,and(3)compare the yield gap between experimental yield and production yield.The results show that both the production and experimental yields significantly increased along with the variety replacement.The national annual yield increase ratio for the production yield was 1.67%from 1978 to 2018,varying from 0.96%in Sichuan Province to 2.78%in Hebei Province;such ratio for the experimental yield was 1.13%from 1937 to 2016.The yield gap between experimental and production yields decreased from the 1970s to the 2010s.This study reveals significant increases in some yield components consequent to variety replacement,including thousand-grain weight,kernel number per spike,and grain number per square meter;however,no change is shown in spike number per square meter.The biomass and harvest index consistently and significantly increased,whereas the plant height decreased significantly.
文摘In China, the vast majority of the bibliographic databases is commercial, such as China National Knowledge Infrastructure (CNKI), Wanfang Database, Longyuan Journal Net, CQVIP Company, however, there are also non-profit open access (OA) databases, such as journal database jointly established by Chinese Academy of Social Sciences (CASS) and National Social Science Fund. The commercial bibliographic databases have to face many difficulties: intellectual property disputes, the benefit distribution between the hardcopy periodical and the commercial bibliographic database, the lack of quality assessment about the commercial bibliographic databases, the need of improving digital technology as well as the lack of a unified database regulation, which restricts the development of commercial bibliographic databases. This paper puts forward the countermeasures from the perspective of how to enhance the governmental management; how to protect the intellectual property fight; how to improve the technical standard of the commercial bibliographic databases; how to build interest distribution between the hardcopy periodical and the commercial bibliographic database; how to improve the quality of commercial bibliographic databases; and how to improve the industrial chain of the commercial bibliographic databases.
基金This study was financially supported by National Natural Science Foundation of China(grant No.U20A2080,31622015)the Institutional Research Fund from Sichuan University(2021SCUNL102)Fundamental Research Fund for the Central Universities of China(SCU 2021D006,SCU 2022D003).
文摘Endangered species generally have small populations with low genetic diversity and a high genetic load.Thuja sutchuenensis is an endangered conifer endemic to southwestern China.It was once considered extinct in the wild,but in 1999 was rediscovered.However,little is known about its genetic load.We collected 67 individuals from five wild,isolated T.sutchuenensis populations,and used 636,151 SNPs to analyze the level of genetic diversity and genetic load in T.sutchuenensis to delineate the conservation units of T.sutchuenensis,based on whole transcriptome sequencing data,as well as target capture sequencing data.We found that populations of T.sutchuenensis could be divided into three groups.These groups had low levels genetic diversity and were moderately genetically differentiated.Our findings also indicate that T.sutchuenensis suffered two severe bottlenecks around the Last Glaciation Period and Last Glacial Maximum.Among Thuja species,T.sutchuenensis presented the lowest genetic load and hence might have purged deleterious mutations efficiently through purifying selection.However,distribution of fitness effects analysis indicated a high extinction risk for T.sutchuenensis.Multiple lines of evidence identified three management units for T.sutchuenensis.Although T.sutchuenensis possesses a low genetic load,low genetic diversity,suboptimal fitness,and anthropogenic pressures all present an extinction risk for this rare conifer.This might also hold true for many endangered plant species in the mountains all over the world.
基金supported by the Scientific and Innovative Action Plan of Shanghai(21N31900800)Shanghai Rising-Star Program(23QB1403500)+4 种基金the Shanghai Sailing Program(20YF1443000)Shanghai Science and Technology Commission,the Belt and Road Project(20310750500)Talent Project of SAAS(2023-2025)Runup Plan of SAAS(ZP22211)the SAAS Program for Excellent Research Team(2022(B-16))。
文摘Traditional transgenic detection methods require high test conditions and struggle to be both sensitive and efficient.In this study,a one-tube dual recombinase polymerase amplification(RPA)reaction system for CP4-EPSPS and Cry1Ab/Ac was proposed and combined with a lateral flow immunochromatographic assay,named“Dual-RPA-LFD”,to visualize the dual detection of genetically modified(GM)crops.In which,the herbicide tolerance gene CP4-EPSPS and the insect resistance gene Cry1Ab/Ac were selected as targets taking into account the current status of the most widespread application of insect resistance and herbicide tolerance traits and their stacked traits.Gradient diluted plasmids,transgenic standards,and actual samples were used as templates to conduct sensitivity,specificity,and practicality assays,respectively.The constructed method achieved the visual detection of plasmid at levels as low as 100 copies,demonstrating its high sensitivity.In addition,good applicability to transgenic samples was observed,with no cross-interference between two test lines and no influence from other genes.In conclusion,this strategy achieved the expected purpose of simultaneous detection of the two popular targets in GM crops within 20 min at 37°C in a rapid,equipmentfree field manner,providing a new alternative for rapid screening for transgenic assays in the field.
基金2006 Shandong Provincial Science and Technology Development Plans (No. 2006GG2209009)Research Funds for Junior Scientist of Shandong Academy of Agricultural Sciences (No. 2005YQ012).
文摘Eighty-five pomegranate (Punica granatum L.) cultivars from six geographical populations located at Shandong, Anhui, Shaanxi, Henan, Yunnan, and Xinjiang Provinces were studied for its population genetic diversity by means of fluorescent-AFLP markers. The results indicated that 135-185 polymorphic loci were amplified by eight pairs of primers at species level. An average of 158.25 polymorphic loci was amplified for each primer combination. The polymorphism percentage ranged from 62.5% to 86.11%, and the average polymorphism percentage was 73.26%. This indicated that there was plentiful genetic diversity in pomegranate cultivars. The genetic diversity at the species level was higher than that at the population level. The order of the genetic diversity was Henan population 〉 Xinjiang population 〉 Shaanxi population 〉 Anhui population 〉 Shandong population 〉 Yunnan population. Variance analysis showed that there was significant difference between populations in genetic diversity. The genetic differentiation coefficient between populations (Gsr) was 0.2018, which indicated that gene differentiation was mainly within the population, and between populations, it accounted for 20.18% of the total variation. Gene flow (Nm) between the populations measured was 1.9027 based on the genetic differentiation coefficient between populations, indicating that there was mild gene flow between populations. The UPGMA cluster analysis showed that most accessions from the same population were clustered together, but there was partly gene exchange. All genetic parameters indicated that there was plentiful genetic diversity in pomegranate cultivars in China, of which Henan population was significantly higher than the other populations, and it had wide application foreground in pomegranate breeding in China.
基金supported by the Scientific and Technological Innovation 2030 Major Project(2022ZD04019)the Science and Technology Innovation Capacity Building Project of BAAFS(KJCX20230303)+1 种基金Hainan Province Science and Technology Special Fund(ZDYF2023XDNY077)the Beijing Scholars Program(BSP041)。
文摘To reduce the cost and increase the efficiency of plant genetic marker fingerprinting for variety discrimination,it is desirable to identify the optimal marker combinations.We describe a marker combination screening model based on the genetic algorithm(GA)and implemented in a software tool,Loci Scan.Ratio-based variety discrimination power provided the largest optimization space among multiple fitness functions.Among GA parameters,an increase in population size and generation number enlarged optimization depth but also calculation workload.Exhaustive algorithm afforded the same optimization depth as GA but vastly increased calculation time.In comparison with two other software tools,Loci Scan accommodated missing data,reduced calculation time,and offered more fitness functions.In large datasets,the sample size of training data exerted the strongest influence on calculation time,whereas the marker size of training data showed no effect,and target marker number had limited effect on analysis speed.
基金the Directorate General of Research and Development Strengthening and Ministries of Research,Technology and Higher Education of the Republic of Indonesia(009/SP2H/LT/DRPM/2019)for generousfinancial support our work.
文摘Pineapple,a popular tropical fruit with diverse culinary and health applications,has gained significant attention due to its economic importance,health benefits,and scientific exploration.Abiotic stress has been shown to have detrimental effects on physiological aspects of pineapple,such as photosynthesis rate and internal browning.However,physical and physiological parameters are inadequate in providing accurate assessment,early detection,and enabling marker-assisted breeding for pineapple under abiotic stress.Genetic markers provide valuable insights into plant defense mechanisms and stress tolerance,enabling the identification of key genes and pathways involved.The aim of this review was to discuss the potential of genetic markers as a reliable tool for studying abiotic stress in pineapple.It focuses on genes involved in stress response and their utility as genetic markers,while also discussing physiological changes.The responsiveness of several gene families,including CPK,CBL,CYS,Dof,TALE,SBP,WRKY,ZIP,R2R3-MYB,and DREB,to abiotic stress has been known before.Therefore,harnessing the potential of these genes can yield valuable insights for comprehending and effectively managing abiotic stress in pineapple.A comprehensive understanding of the genetic response to abiotic stress in pineapple is essential for enhancing agricultural productivity and developing stress-resistant varieties.
基金supported by the National Natural Science Foundation of China (32170547)to Hui Zhangthe Program for Professor of Special Appointment (Eastern Scholar)at Shanghai Institutions of Higher Learning (TP2018066)to Hui Zhangthe Natural Science Foundation of Shanghai (21ZR1447100)to Wenjuan Wu.
文摘We have developed a dual base editor,rA&GBE,by fusing adenine and glycosylase base editors.It can induce up to eight types of mutations in T0-generation rice,including single-base conversion,simultaneous multiple-base conversions,and InDels,using a single guide RNA.A-to-G and C-to-G/T conversions occur simultaneously on the same DNA strand.The rA&GBE system may prove useful for crop improvement and in planta direct evolution.