Angiotensin-converting Enzyme Gene Insertion/Deletion Polymorphism in Children with Henoch-Schonlein Purpua Nephritis

This study investigated the relationship between angiotensin-converting enzyme (ACE) gene insertion/deletion polymorphism and the occurrence, severity, prognosis of HSPN. The polymorphism of ACE gene in 103 HSPN cases and 100 healthy children was studied by using the polymerase chain reactions (PCR). Its relation to the clinical manifestation, pathological classification and prognosis of HSPN was analyzed accordingly. The results showed that: (1) there was a significantly higher frequency for DD genotype in HSPN children (P<0.01); (2) DD genotype was more frequently seen in HSPN children with gross hematuria and massive proteinuria (P<0.05), while DI genotype was more common in HSPN children group with renal insufficiency (P<0.05); (3) although mesangial proliferative lesion was most frequently observed in 21 biopsied HSPN children, and DD genotype frequency was still higher in children with severe pathology (Class Ⅲ Ⅳ); (4)II genotype was significantly frequent in HSPN children with complete remission in the follow-up of 32 HSPN children. It was concluded that the deletion allele of ACE gene might play a role, at least to some extent, in the occurrence, deterioration and progression in juvenile HSPN.

Correlation between the Insertion/Deletion Mutations of Prion Protein Gene and BSE Susceptibility and Milk Performance in Dairy Cows

Objective To investigate the 23 bp and 12 bp insertion/deletion(indel)mutations within the bovine prion protein(PRNP)gene in Chinese dairy cows,and to detect the associations of two indel mutations with BSE susceptibility and milk performance.Methods Based on bovine PRNP gene sequence,two pairs of primers for testing the 23 bp and 12 bp indel mutations were designed.The PCR amplification and agarose electrophoresis were carried out to distinguish the different genotypes within the mutations.Moreover,based on previous data from other cattle breeds and present genotypic and allelic frequencies of two indels mutations in this study,the corrections between the two indel mutations and BSE susceptibility were tested,as well as the relationships between the mutations and milk performance traits were analyzed in this study based on the statistical analyses.Results In the analyzed Chinese Holstein population,the frequencies of two"del"alleles in 23 bp and 12 bp indel muations were more frequent.The frequency of haplotype of 23del-12del was higher than those of 23del-12ins and 23ins-12del.From the estimated r2and D’values,two indel polymorphisms were linked strongly in the Holstein population(D’=57.5%,r2=0.257).Compared with the BSE-affected cattle populations from the reported data,the significant differences of genotypic and allelic frequencies were found among present Holstein and some BSE-affected populations(P<0.05 or P<0.01).Similarly,there were significant frequency distribution differences of genotypes and alleles among Chinese Holstein and several previous reported healthy dairy cattle(P<0.05 or P<0.01).Moreover,association of genotype and combined genotypes of two indel polymorphisms with milk performance and resistant mastitis traits were analyzed in Holstein population,but no significant differences were found(P>0.05).Conclusions These observations revealed that the influence of two indel mutations within the bovine PRNP gene on BSE depended on the breed and they did not affect the milk production traits,which layed the foundation for future selection of resistant animals,and for improving health conditions for dairy breeding against BSE in China.

Association study between the angiotensin converting enzyme gene insertion/deletion polymorphism and Qinghai Han Chinese with congenital heart disease

Objective: The aim of this work is to determine whether the angiotensin converting enzyme(ACE) I/D(insertion/deletion) polymorphism is associated with the susceptibility to congenital heart disease(CHD) in the Qinghai Han Chinese. Methods: This study enrolled 59 CHD patients and 193 CHD controls from Qinghai Cardiovascular Diseases Vocational Hospital. Blood samples were collected from each of the patient and control groups. The ACE-I/D polymorphism was detected by polymerase chain reaction(PCR). Results: The genotype frequencies of ACE-I/D for II, ID, DD in patients and controls were 0.475, 0.441, 0.085 and 0.430, 0.446, 0.124, respectively. The allelic frequencies of I and D were 0.650, 0.350 and 0.695, 0.305, respectively. The OR of ID, DD and D alleles relative to II for CHD was 1.116(0.604-2.060), 1.619(0.564-4.648) and 1.211(0.777-1.889). There was no significant difference of the genotypic and the allelic frequencies in ACE-I/D polymorphism between the patient and control groups. Conclusion: There is no relation between ACE-I/D polymorphism and CHD in current Qinghai Han Chinese.

Association of angiotensin converting enzyme gene insertion/deletion polymorphism with essential hypertension in south Indian population

Genetic,environmental and demographic factors contribute to the development of essential hypertension.Genetic polymorphism of Rennin-angiotensin-aldosterone system(RAAS)has been extensively studied to determine the genetic susceptibility to hypertension.The insertion/deletion(I/D)angiotensin converting enzyme(ACE)polymorphism has been established as a cardiovascular risk factor in some population,but its association with essential hypertension is controversial.This study sought to determine the association of I/D polymorphism of the ACE gene in south Indian essential hypertensive subjects.A total of 208 clinically diagnosed essential hypertensive patients without any associated diseases and 220 healthy control subjects were included in this study.Distribution and allelic frequency of Insertion(I)and Deletion(D)polymorphism at the 287 base pair Alu repeat sequence in the intron 16 of ACE gene were analyzed.The distribution of II,ID,DD genotypes of ACE gene was 28.3%,32.6%and 38.9%respectively in essential hypertensive patients and to 53.6%,26.3%and 20%in controls.The allele frequency for D allele is 0.58 in essential hypertension as compared to 0.34 of control subjects.The genotype and allele frequency of ACE gene polymorphism is significantly differed in patients when compared to controls.In conclusion,the I/D polymorphism of ACE gene is associated with Indian essential hypertension.

An efficient method for constructing a random insertional mutant library for forward genetics in Nannochloropsis oceanica

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.

Velamentous Cord Insertion: Interest of Antenatal Diagnosis and Review of the Literature

Velamentous insertion of the umbilical cord corresponds to the insertion of the cord directly on amniotic membranes. It is a rare situation whose frequency varies from 0.5% to 1.69% of single pregnancies. It must be diagnosed during the morphological ultrasound of the 2nd trimester, actively looking for the association with a vasa previa, due to the risk of fetal haemorrhagic threat. We report an antenatal diagnosis of velamentous cord insertion and its management with literature review.

Treatment of benign rectal stricture caused by repeated anal insertion by endoscopy and balloon dilation:A case report

BACKGROUND Benign rectal strictures can be categorized as primary(disease-related)and secondary(surgical anastomosis-related).Secondary strictures arise from surgical complications,whereas primary strictures have diverse etiologies,including various inflammatory conditions.Benign strictures are usually managed by surgery and endoscopy.We present an unusual etiology of benign rectal stricture caused by the repeated insertion of foreign objects into the rectum for sexual purposes,resulting in rectal injury and subsequent chronic inflammation.CASE SUMMARY A 53-year-old man presented to the outpatient clinic of the Colorectal Surgery Department with symptoms of chronic constipation and bloody stools.The patient previously experienced rectal injury due to foreign object insertion for sexual purposes.Colonoscopy revealed benign circumferential narrowing of the rectum.He underwent treatment by endoscopic argon plasma coagulation and balloon dilation and follow-up as an outpatient for 4 months.A colonoscopy at the end of the follow-up period revealed no evidence of rectal stricture relapse.CONCLUSION A history of rectal injury,followed by chronic inflammation,should be considered in patients with benign rectal strictures.Management with endoscopic argon plasma coagulation and balloon dilation can prevent the need for surgical resection of benign rectal strictures.

Relationship between insertion/deletion polymorphism of angiotensin converting enzyme gene and type 2 diabetic kidney disease

Objective To explore the interaction of angiotensinconverting enzyme (ACE) insertion /deletion(I /D) polymorphism( rs1799752 ) with diabetic kidney disease(DKD) development as well as its interaction with smokingand obesity in Chinese type 2 diabetic mellitus(T2DM) using an improved experiment method. MethodsFrom June 2016 to March 2018,300 T2DM patientswith DKD [DKD( +)]and 300 T2DM patients withoutDKD [DKD ( - )] were selected from China-JapanFriendship Hospital. The improved Triple Primer Methodthat combined PCR with capillary electrophoresis was establishedin this study to detect the ACE genotype. Therelevant clinical data as well as the frequencies of genotypeand allele of ACE gene I /D polymorphism betweenthe two groups were statistically analyzed. Patients werefurther grouped based on smoking status and obesity formultivariate regression.

Can the occurrence of rare insertion/deletion polymor-phisms in human mtDNA be verified from phylogeny?

Due to its specific characteristics, such as ma-ternal inheritance and absence of recombination, each mtDNA belongs to certain monophyletic clade in the rooted mtDNA tree (haplogroup) according to the mutations it harbors. Rare mutation (excluding parallel mutation) occur-ring at multiple times in different haplogroups could thus be a potential reading error according to the mtDNA phylogeny. This experience has been widely used in double-checking the credibility of the rare mutations in human mtDNA sequences. However, no test has been performed so far for the feasibility of applying this strategy to the rare insertion/deletion (indel) events in mtDNA sequences. In this study, we attempted to relate the rare indels in mtDNAs to their haplogroup status in a total of 2352 individuals from 50 populations in China. Our results show that the insertion of A at position 16259 is restricted to a subclade of haplogroup C and can be verified. The other indel polymorphisms, which occur in the repeat of the deleted or inserted nucleotide(s), may not be distin-guished from phantom mutations from a phylogenetic point of view. Independently and multiply sequencing the frag-ment with the indel is the best and the most reliable way for confirmation.

Genetic diversity analysis of forty-three insertion/deletion loci for forensic individual identification in Han Chinese from Beijing based on a novel panel

Due to the virtues of no stutter peaks,low rates of mutation,and short amplicon sizes,insertion/deletion(InDei)polymorphism is an indispensable tool for analyzing degraded DNA samples from crime scenes for human identifications(Wang et al.,2021).Herein,a self-developed panel of 43 InDei loci constructed previously by our group was utilized to evaluate the genetic diversities and explore the genetic background of the Han Chinese from Beijing(HCB)including 301 random healthy individuals.

Efficient large fragment deletion in plants:double pairs of sgRNAs are better than dual sgRNAs

Dear Editor,Clustered Regularly Interspaced Short Palindromic Repeats(CRISPR)is a powerful and versatile gene editing system that has been extensively utilized in various animals and plants,which holds enormous potential and value for scientific research and breeding.However,single-targeted CRISPR can only induce a few base deletions,insertions,or substitution.Ideally,thesemutations result in premature termination of the protein encoded by the target gene,leading to a loss of function[1].

Atomic-scale insights of indium segregation and its suppression by GaAs insertion layer in InGaAs/AlGaAs multiple quantum wells

The In segregation and its suppression in InGaAs/AlGaAs quantum well are investigated by using high-resolution x-ray diffraction(XRD)and photoluminescence(PL),combined with the state-of-the-art aberration corrected scanning transmission electron microscopy(Cs-STEM)techniques.To facility our study,we grow two multiple quantum wells(MQWs)samples,which are almost identical except that in sample B a thin GaAs layer is inserted in each of the InGaAs well and AlGaAs barrier layer comparing to pristine InGaAs/AlGaAs MQWs(sample A).Our study indeed shows the direct evidences that In segregation occurs in the InGaAs/AlGaAs interface,and the effect of the Ga As insertion layer on suppressing the segregation of In atoms is also demonstrated on the atomic-scale.Therefore,the atomic-scale insights are provided to understand the segregation behavior of In atoms and to unravel the underlying mechanism of the effect of GaAs insertion layer on the improvement of crystallinity,interface roughness,and further an enhanced optical performance of InGaAs/AlGaAs QWs.

Complications Related to the Insertion Technique of Jadelle® Contraceptive Implants

Introduction: Contraceptive implants are one of the most effective methods of birth spacing. Jadelle® implants consist of two strands that are easy to insert and remove. Although their effectiveness is no longer in question, their use (insertion) requires a surgical procedure with the corollary possibility of complications. These are mainly insertions that are too deep (in the arm muscle), vascular and nerve damage. Material and Methods: Our study focused on complications related to implant insertion. It was a descriptive and retrospective study over thirty-four months, from October 2016 to July 2019, and concerned all patients seen in consultation and who presented a complication related to the insertion of contraceptive implants in the Department of Gynecology and Obstetrics of the National Hospital of Pikine. Results: We collected nine complications managed at the Gynecology and Obstetrics Department of the Centre Hospitalier National de Pikine from 2016 to 2019. These were insertions that were too deep with sometimes nerve damage, infection or incident during anesthesia. The operative procedures were based on the type of complication. Conclusion: Although Jadelle® has the advantage of having only 2 rods compared to its predecessor Norplant®, its use is also conditioned by insertion and removal procedures which may experience complications.

Complicated expansion trajectories of insertion sequences and potential association with horizontal transfer of Wolbachia DNA

DEAR EDITOR,Insertion sequences(ISs) are the simplest structural transposable elements(TEs) in prokaryotes, consisting only of a transposase coding sequence and its bilateral short terminal inverted repeats. Due to their gradually streamlined genomic construction, TEs rarely exist in the genomes of obligate endosymbionts. However, TE content, especially ISs.

Promoter insertion leads to polyembryony in mango-a case of convergent evolution with citrus

Sexual reproduction in plants is the main pathway for creating new genetic combinations in modern agriculture.In heterozygous plants,after the identification of a plant with desired traits,vegetative propagation(cloning)is the primary path to create genetically uniform plants.Another natural plant mechanism that creates genetically uniform plants(clones)is apomixis.In fruit crops like citrus and mango,sporophytic apomixis results in polyembryony,where seeds contain multiple embryos,one of which is sexually originated and the others are vegetative clones of the parent mother tree.Utilizing the mango genome and genetic analysis of a diverse germplasm collection,we identified MiRWP as the gene that causes polyembryony in mango.There is a strong correlation between a specific insertion in the gene’s promoter region and altered expression in flowers and developing fruitlets,inducing multiple embryos.The MiRWP gene is an ortholog of CitRWP that causes polyembryony in citrus.Based on the data,we speculate that promoter insertion events,which occurred independently in citrus and mango,induced nucellar embryogenesis.The results suggest convergent evolution of polyembryony in the two species.Further work is required to demonstrate the utility of these genes(mango and citrus)in other biological systems as a tool for the clonal production of other crops.

Novel Deletion in Exon 7 of Betaine Aldehyde Dehydrogenase 2(BADH2)

The fragrance of rice is one of the premium characteristics that breeders want to include in rice varieties due to the higher market value. Nucleotide deletions in exons 2(7 bp) and 7(8 bp) of Betaine Aldehyde Dehydrogenase 2(BADH2) are associated with fragrance in rice. In this study, a new 13 bp deletion in exon 7 of the BADH2 gene was discovered in the Nang Thom Cho Dao(NTCD) variety, and the mutation has been closely related to the genetic background of indica subspecies through the Bayesian phylogenetic approach and haplotype network analysis of the 3 000 Rice Genomes Project. In addition, a set of functional markers(EX07-13F, EX07-13RN, and EX07-13RM) identified the 13 bp deletion only within NTCD(no amplified band) compared with both non-aromatic and other aromatic rice varieties(110 bp band). The deletion of 13 bases instead of 8 bases in exon 7 of BADH2 caused a premature stop codon, which down-regulated the expression of the BADH2 transcript while associated with up-regulation of OsP5CS and the high amount of 2-acetyl-1-pyrroline. It is potential to use the deletion in exon 7 of the BADH2 gene as a novel marker for adulteration and breeding of fragrant rice varieties, particularly for NTCD.

De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family

AIM:To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32.METHODS:A family with familial exudative vitreoretinopathy(FEVR)phenotype was included in the study.Whole-exome sequencing(WES)was initially used to locate copy number variations(CNVs)on 7q31.31-31.32,but failed to detect the precise breakpoint.The long-read sequencing,Oxford Nanopore sequencing Technology(ONT)was used to get the accurate breakpoint which is verified by quantitative real-time polymerase chain reaction(QPCR)and Sanger Sequencing.RESULTS:The proband,along with her father and younger brother,were found to have a heterozygous 4.5 Mb CNV deletion located on 7q31.31-31.32,which included the FEVRrelated gene TSPAN12.The specific deletion was confirmed as del(7)(q31.31q31.32)chr7:g.119451239_123956818del.The proband exhibited a phase 2A FEVR phenotype,characterized by a falciform retinal fold,macular dragging,and peripheral neovascularization with leaking of fluorescence.These symptoms led to a significant decrease in visual acuity in both eyes.On the other hand,the affected father and younger brother showed a milder phenotype.CONCLUSION:The heterozygous CNV deletion located on 7q31.31-7q31.32 is associated with the FEVR phenotype.The use of long-read sequencing techniques is essential for accurate molecular diagnosis of genetic disorders.

Deletion and Recovery Scheme of Electronic Health Records Based onMedical Certificate Blockchain

The trusted sharing of Electronic Health Records(EHRs)can realize the efficient use of medical data resources.Generally speaking,EHRs are widely used in blockchain-based medical data platforms.EHRs are valuable private assets of patients,and the ownership belongs to patients.While recent research has shown that patients can freely and effectively delete the EHRs stored in hospitals,it does not address the challenge of record sharing when patients revisit doctors.In order to solve this problem,this paper proposes a deletion and recovery scheme of EHRs based on Medical Certificate Blockchain.This paper uses cross-chain technology to connect the Medical Certificate Blockchain and the Hospital Blockchain to real-ize the recovery of deleted EHRs.At the same time,this paper uses the Medical Certificate Blockchain and the InterPlanetary File System(IPFS)to store Personal Health Records,which are generated by patients visiting different medical institutions.In addition,this paper also combines digital watermarking technology to ensure the authenticity of the restored electronic medical records.Under the combined effect of blockchain technology and digital watermarking,our proposal will not be affected by any other rights throughout the process.System analysis and security analysis illustrate the completeness and feasibility of the scheme.

Novel GaN-based double-channel p-heterostructure field-effect transistors with a p-GaN insertion layer

GaN-based p-channel heterostructure field-effect transistors(p-HFETs)face significant constraints on on-state currents compared with n-channel high electron mobility transistors.In this work,we propose a novel double heterostructure which introduces an additional p-GaN insertion layer into traditional p-HFETs.The impact of the device structure on the hole densities and valence band energies of both the upper and lower channels is analyzed by using Silvaco TACD simulations,including the thickness of the upper AlGaN layer and the doping impurities and concentration in the GaN buffer layer,as well as the thickness and Mg-doping concentration in the p-GaN insertion layer.With the help of the p-GaN insertion layer,the C-doping concentration in the GaN buffer layer can be reduced,while the density of the two-dimensional hole gas in the lower channel is enhanced at the same time.This work suggests that a double heterostructure with a p-GaN insertion layer is a better approach to improve p-HFETs compared with those devices with C-doped buffer layer alone.