Background: Androgen insensitivity syndrome(AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor(AR) gene. A variety of tumors have been report...Background: Androgen insensitivity syndrome(AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor(AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer(CRC) have been described.Case presentation: Here, we present a male patient with AIS who developed multiple early-onset CRCs and his pedigree. His first cousin was diagnosed with AIS and harbored the same AR gene mutation, but with no signs of CRC. The difference in clinical management for the two patients was that testosterone treatment was given to the proband for a much longer time compared with the cousin. The CRC family history was negative, and no germline mutations in well-known CRC-related genes were identified. A single nucleotide polymorphism array revealed a microduplication on chromosome 22q11.22 that encompassed a micro RNA potentially related to CRC pathogenesis. In the proband, whole exome sequencing identified a polymorphism in an oncogene and 13 rare loss-of-function variants, of which two were in CRC-related genes and four were in genes associated with other human cancers.Conclusions: By pathway analysis, all inherited germline genetic events were connected in a unique network whose alteration in the proband, together with continuous testosterone stimulation, may have played a role in CRC pathogenesis.展开更多
In order to save manpower and time costs,and to achieve simultaneous detection of multiple animal-derived components in meat and meat products,this study used multiple nucleotide polymorphism(MNP)marker technology bas...In order to save manpower and time costs,and to achieve simultaneous detection of multiple animal-derived components in meat and meat products,this study used multiple nucleotide polymorphism(MNP)marker technology based on the principle of high-throughput sequencing,and established a multi-locus 10 animalderived components identification method of cattle,goat,sheep,donkey,horse,chicken,duck,goose,pigeon,quail in meat and meat products.The specific loci of each species could be detected and the species could be accurately identified,including 5 loci for cattle and duck,3 loci for sheep,9 loci for chicken and horse,10 loci for goose and pigeon,6 loci for quail and 1 locus for donkey and goat,and an adulteration model was established to simulate commercially available samples.The results showed that the method established in this study had high throughput,good repeatability and accuracy,and was able to identify 10 animalderived components simultaneously with 100%repeatability accuracy.The detection limit was 0.1%(m/m)in simulated samples of chicken,duck and horse.Using the method established in this study to test commercially available samples,4 samples from 14 commercially available samples were detected to be inconsistent with the labels,of which 2 did not contain the target ingredient and 2 were adulterated with small amounts of other ingredients.展开更多
The energy of interaction between complementary nucleotides in promoter sequences of E. coli was calculated and visualized. The graphic method for presentation of energy properties of promoter sequences was elaborated...The energy of interaction between complementary nucleotides in promoter sequences of E. coli was calculated and visualized. The graphic method for presentation of energy properties of promoter sequences was elaborated on. Data obtained indicated that energy distribution through the length of promoter sequence results in picture with minima at –35, –8 and +7 regions corresponding to areas with elevated AT (adenine-thymine) content. The most important difference from the random sequences area is related to –8. Four promoter groups and their energy properties were revealed. The promoters with minimal and maximal energy of interaction between complementary nucleotides have low strengths, the strongest promoters correspond to promoter clusters characterized by intermediate energy values.展开更多
The complete nucleotide sequence of the mumps virus SP, which was isolated in China, was determined. As with other mumps viruses, its genome was 15 384 nucleotides (nts) in length and encoded seven proteins. The full-...The complete nucleotide sequence of the mumps virus SP, which was isolated in China, was determined. As with other mumps viruses, its genome was 15 384 nucleotides (nts) in length and encoded seven proteins. The full-length nucleotide sequence of the SP isolate differed from other strains by 4% –6.8% at the nucleotide sequence level. Due to variations of amino acids over the full genome (including the HN and N genes), this isolate exhibited significant variations in the antigenic sites. This report is the first to describe the full-length genome of a genotype F strain and provide an overview of the diversity of genetic characteristics of a circulating mumps virus.展开更多
Here we report the adaptation and optimization of an effi cient, accurate and inexpensive assay that employs custom-designed silicon-based optical thin-fi lm biosensor chips to detect unique transgenes in genetically ...Here we report the adaptation and optimization of an effi cient, accurate and inexpensive assay that employs custom-designed silicon-based optical thin-fi lm biosensor chips to detect unique transgenes in genetically modi-展开更多
Objective This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease(NAFLD)in children with obesity.Methods We conducted a two-step case-control study.Ninety-three ...Objective This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease(NAFLD)in children with obesity.Methods We conducted a two-step case-control study.Ninety-three participants were subjected to whole-exome sequencing(exploratory set).Differential genes identified in the small sample were validated in 1,022 participants using multiplex polymerase chain reaction and high-throughput sequencing(validation set).Results In the exploratory set,14 genes from the NAFLD-associated pathways were identified.In the validation set,after adjusting for sex,age,and body mass index,ECI2 rs2326408(dominant model:OR=1.33,95%CI:1.02–1.72;additive model:OR=1.22,95%CI:1.01–1.47),C6orf201 rs659305(dominant model:OR=1.30,95%CI:1.01–1.69;additive model:OR=1.21,95%CI:1.00–1.45),CALML5rs10904516(pre-ad dominant model:OR=1.36,95%CI:1.01–1.83;adjusted dominant model:OR=1.40,95%CI:1.03–1.91;and pre-ad additive model:OR=1.26,95%CI:1.04–1.66)polymorphisms were significantly associated with NAFLD in children with obesity(P<0.05).Interaction analysis revealed that the gene-gene interaction model of CALML5 rs10904516,COX11 rs17209882,and SCD5 rs3733228 was optional(P<0.05),demonstrating a negative interaction between the three genes.Conclusion In the Chinese population,the CALML5 rs10904516,C6orf201 rs659305,and ECI2rs2326408 variants could be genetic markers for NAFLD susceptibility.展开更多
Using continuous wavelet transform as the analytical tool, the fractal characteristic of nucleotide sequences was studied. The fractal dimension of the exon and intron sequences for different species was calculated. ...Using continuous wavelet transform as the analytical tool, the fractal characteristic of nucleotide sequences was studied. The fractal dimension of the exon and intron sequences for different species was calculated. We use the Mexican hat wavelet function as the mother wavelet and Hurst exponent to describe the long-range correlation. It is found that the Hurst exponent of intron sequence is larger than that of exon sequence for the same gene.展开更多
A new version of DNA walks, where nucleotides are regarded unequal in their contribution to a walk is introduced, which allows us to study thoroughly the “fine structure” of nucleotide sequences. The approach is bas...A new version of DNA walks, where nucleotides are regarded unequal in their contribution to a walk is introduced, which allows us to study thoroughly the “fine structure” of nucleotide sequences. The approach is based on the assumption that nucleotides have an inner abstract characteristic, the determinative degree, which reflects genetic code phenomenological prop-erties and is adjusted to nucleotides physical properties. We consider each codon position independently, which gives three separate walks characterized by different angles and lengths, and that such an object is called triander which reflects the “strength” of branch. A general method for identifying DNA sequence “by triander” which can be treated as a unique “genogram” (or “gene passport”) is proposed. The two- and three-dimensional trianders are considered. The difference of sequences fine structure in genes and the intergenic space is shown. A clear triplet signal in coding sequences was found which is absent in the intergenic space and is independent from the sequence length. This paper presents the topological classification of trianders which can allow us to provide a detailed working out signatures of functionally different genomic regions.展开更多
In this paper we study the scaling behavior of nucleotide cluster in 11 chromosomes of Encephalitozoon cuniculi Genome. The statistical distribution of nucleotide clusters for 11 chromosomes is characterized by the sc...In this paper we study the scaling behavior of nucleotide cluster in 11 chromosomes of Encephalitozoon cuniculi Genome. The statistical distribution of nucleotide clusters for 11 chromosomes is characterized by the scaling behavior of P ( S ) ∝ e ?αS, where S represents nucleotide cluster size. The cluster-size distribution P(S1+S2) with the total size of sequential C-G cluster and A-T cluster S1+S2 were also studied. P(S1+S2) follows exponential decay. There does not exist the case of large C-G cluster following large A-T cluster or large A-T cluster following large C-G cluster. We also discuss the relatively random walk length function L(n) and the local compositional complexity of nucleotide sequences based on a new model. These investigations may provide some insight into nucleotide cluster of DNA sequence.展开更多
Using the complete genome of Plasmodium falciparum 3D7 which has 14 chromosomes as an example, we have examined the distribution functions for the amount of C or G and A or T consecutively and non-overlapping blocks o...Using the complete genome of Plasmodium falciparum 3D7 which has 14 chromosomes as an example, we have examined the distribution functions for the amount of C or G and A or T consecutively and non-overlapping blocks of m bases in this system. The function P(S) about the number of the consecutive C-G or A-T content cluster conforms to the relation P(S)∝e? ; αs values of the scaling exponent αCG are much larger than αAT; and αAT of 14 chromosomes are hardly changed, whereas αCG of 14 chromosomes have a number of fluctuations. We found maximum value of A-T cluster size is much larger than C-G, which implies the existence of large A-T cluster. Our study of the width function ξ(m) of cluster C-G content showed that follows good power law ξ(m)∝m?γ. The average γ for 14 chromosomes is 0.931. These investigations provide some insight into the nucleotide clusters of DNA sequences, and help us understand other properties of DNA sequences.展开更多
The complete nucleotide sequence of the measles virus strain IMB-1,which was isolated in China,was determined.As in other measles viruses,its genome is 15,894 nucleotides in length and encodes six proteins.The full-le...The complete nucleotide sequence of the measles virus strain IMB-1,which was isolated in China,was determined.As in other measles viruses,its genome is 15,894 nucleotides in length and encodes six proteins.The full-length nucleotide sequence of the IMB-1 isolate differed from vaccine strains (including wild-type Edmonston strain) by 4%-5% at the nucleotide sequence level.This isolate has amino acid variations over the full genome,including in the hemagglutinin and fusion genes.This report is the first to describe the full-length genome of a genotype H1 strain and provide an overview of the diversity of genetic characteristics of a circulating measles virus.展开更多
The brown marmorated stink bug, <i><span style="font-family:Verdana;">Halyomorpha halys</span></i><span style="font-family:Verdana;"> (Stal) (Hemiptera: Pentatomidae) ...The brown marmorated stink bug, <i><span style="font-family:Verdana;">Halyomorpha halys</span></i><span style="font-family:Verdana;"> (Stal) (Hemiptera: Pentatomidae) is an invasive species native to East Asia that has spread across Asia, Europe</span><span style="font-family:Verdana;">,</span><span style="font-family:;" "=""><span style="font-family:Verdana;"> and North America. </span><i><span style="font-family:Verdana;">H. halys </span></i><span style="font-family:Verdana;">causes damages to various grains, fruits, and vegetables, which is exemplified by the significant damage to the hazelnut harvest in Georgia (during 2016). This report describes the first attempted genetic study of the spread of </span><i><span style="font-family:Verdana;">H. halys</span></i><span style="font-family:Verdana;"> in Georgia. The first main goal of this research was to identify the haplotype of an invasive population in Georgia. For this purpose, the mitochondrial cytochrome c oxidase I subunit (</span><i><span style="font-family:Verdana;">COI</span></i><span style="font-family:Verdana;">) gene fragment from 65 samples</span><i><span style="font-family:Verdana;"> of H. halys</span></i><span style="font-family:Verdana;"> collected from different regions across Georgia was sequenced on an Applied Biosystems 3100 or 3700 genetic analyzer. In all cases, only the H1 haplotype, which is native to China, was identified. The second goal of this research was to determine the complete mitochondrial DNA sequence of </span><i><span style="font-family:Verdana;">H. halys</span></i><span style="font-family:Verdana;"> (Stal) specimens collected </span><span style="font-family:Verdana;">across Georgia. The complete mitochondrial DNA of H1 haplotype s</span><span style="font-family:Verdana;">equenced on an Illumina MiSeq platform. The mitochondrial DNA of the Georgian H1 haplotype has a length of 15</span></span><span style="font-family:Verdana;">,</span><span style="font-family:;" "=""><span style="font-family:Verdana;">478 base pairs. Using the sequence of the H22 haplotype of </span><i><span style="font-family:Verdana;">H. halys </span></i><span style="font-family:Verdana;">(native to Korea) as a reference, 62 single nucleotide polymorphisms (SNPs), three inversions</span></span><span style="font-family:Verdana;">,</span><span style="font-family:;" "=""><span style="font-family:Verdana;"> and four single T insertions were identified. Furthermore, 60 SNPs and four insertions in two tRNA and one rRNA genes were identified among 18 mitochondrial genes from the Georgian H1 haplotype. Nine of these SNPs resulted in amino acid substitutions. Furthermore, the detection of SNPs revealed many other polymorphic sites beyond the </span><i><span style="font-family:Verdana;">COI</span></i><span style="font-family:Verdana;"> gene, which can be used to detect new haplotypes.</span></span>展开更多
OBJECTIVE:To explore the mechanism of Xianglian Huazhuo formula(香连化浊方,XLHZ)blocking the development of chronic atrophic gastritis(CAG)to gastric cancer(GC)through bioinformatics analysis and in vitro.METHODS:Path...OBJECTIVE:To explore the mechanism of Xianglian Huazhuo formula(香连化浊方,XLHZ)blocking the development of chronic atrophic gastritis(CAG)to gastric cancer(GC)through bioinformatics analysis and in vitro.METHODS:Pathological morphology of gastric mucosa of rats were observed.High-throughput sequencing was used to analyze the miRNA expression profile of gastric mucosa.The miRanda,miRDB and miRWalk databases were used to predict the differential target genes.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analysis were performed for differential target genes.Real-time quantitative reverse transcription polymerase chain reaction(qRTPCR)was used to verify the differentially expressed miRNAs and target genes.Western blot,EdU,wound healing and flow cytometry were used to observe the effect of XLHZ on epithelial-mesenchymal transition(EMT)markers,proliferation,migration,apoptosis and cell cycle of CAG cells in vitro.RESULTS:A total of five differentially expressed miRNAs and four differential target genes were screened in this study.GO analysis showed that the target genes were enriched in regulation of neuron development,regulation of transcription factor activity and regulation of RNA polymerase.KEGG pathways database differences in gene enrichment of target genes in the Wnt signaling pathway,Phospholipase D signaling pathway and mitogen-activated protein kinase signaling pathway.qRTPCR confirmed that miRNAs and its target genes were consistent with the screening results.In vitro,our study revealed that XLHZ could increase the expression of Ecadherin,decrease the expression of transforming growth factorβ1,vimentin andβ-catenin,inhibite the proliferation and migration of CAG cells,cause cell cycle arrest at G0/G1 and G2/M phase,induce the apoptosis of CAG cells,and prevent the progression of CAG to GC.CONCLUSION:This study provided a new idea for the mechanism of blocking the progression of CAG to GC by XLHZ,which may be related to the expression of miR-20a-3p,miR-320-3p,miR-34b-5p,miR-483-3p and miR-883-3p and their target genes transferrin receptor,nuclear receptor subfamily 4 member 2,delta like canonical Notch ligand 1 and a kinase anchor protein 12 in CAG.In the future,we will continue to investigate the linkage between the active ingredients of XLHZ and the relevant miRNAs and their target genes,so as to provide more sufficient experimental basis for clinically effective prevention of CAG to GC.展开更多
Pain perception is influenced by multiple factors. The single nucleotide polymorphisms（SNPs） of some genes were found associated with pain perception. This study aimed to examine the association of the genotypes of ...Pain perception is influenced by multiple factors. The single nucleotide polymorphisms（SNPs） of some genes were found associated with pain perception. This study aimed to examine the association of the genotypes of ABCB1 C3435 T,OPRM1 A118 G and COMT V108/158M（valine 108/158 methionine） with pain perception in cancer patients. We genotyped 146 cancer pain patients and 139 cancer patients without pain for ABCB1 C3435T（rs1045642）,OPRM1 A118G（rs1799971） and COMT V108/158M（rs4680） by the fluorescent dye-terminator cycle sequencing method,and compared the genotype distribution between groups with different pain intensities by chi-square test and pain scores between groups with different genotypes by non-parametric test. The results showed that in these cancer patients,the frequency of variant T allele of ABCB1 C3435 T was 40.5%; that of G allele of OPRM1 A118 G was 38.5% and that of A allele of COMT V108/158 M was 23.3%. No significant difference in the genotype distribution of ABCB1 C3435T（rs1045642） and OPRM1 A118G（rs1799971） was observed between cancer pain group and control group（P=0.364 and 0.578）; however,significant difference occurred in the genotype distribution of COMT V108/158M（rs4680） between the two groups（P=0.001）. And the difference could not be explained by any other confounding factors. Moreover,we found that the genotypes of COMT V108/158 M and ABCB1 C3435 T were associated with the intensities of pain in cancer patients. In conclusion,our results indicate that the SNPs of COMT V108/158 M and ABCB1 C3435 T significantly influence the pain perception in Chinese cancer patients.展开更多
Owing to the limitation of a large genome size(~13 Gb),the genetic and gene mapping studies on faba bean(Vicia faba L.)are lagging far behind those for other legumes.In this study,we selected three purified faba bean ...Owing to the limitation of a large genome size(~13 Gb),the genetic and gene mapping studies on faba bean(Vicia faba L.)are lagging far behind those for other legumes.In this study,we selected three purified faba bean lines(Yundou 8137,H0003712,and H000572)as parents and constructed two F2 populations.These two F2 populations,namely 167 F2 plants in Pop1(Yundou 8137×H0003712)and 204 F2 plants in Pop2(H000572×Yundou 8137),were genotyped using a targeted next-generation sequencing(TNGS)genotyping platform,and two high-density single nucleotide polymorphisms(SNP)genetic linkage maps of faba bean were constructed.The map constructed from Pop1 contained 5103 SNPs with a length of 1333.31 cM and an average marker density of 0.26 cM.The map constructed from Pop2 contained 1904 SNPs with a greater length of 1610.61 cM.In these two F2 populations,QTL mapping identified 98 QTLs for 14 agronomic traits related to the flowers,pods,plant types and grains.The two maps were then merged into an integrated genetic linkage map containing 6895 SNPs,with a length of 3324.48 cM.These results not only lay the foundation for fine mapping and map-based cloning of related genes,but can also accelerate the molecular marker-assisted breeding of faba bean.展开更多
The introduction of next-generation sequencing(NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential bene...The introduction of next-generation sequencing(NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in the hereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. The best panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. The inclusion in panels of low penetrance or newly identified genes without specific actionability can be problematic for interpretation.Genetic counselors are an essential part of the hereditary cancer risk assessment team, helping the medical team select the most appropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients on the available tests and the potential implications of results for themselves and their family members(pre-test counseling), explain to patients the implications of the test results(post-test counseling), and assist in testing family members at risk.展开更多
The structure gene for ferredoxin, petFI, from Anabaena siamensis has been ampli-fied by polymerase chain reaction(PCR) and cloned into cloning vector pGEM-3zf(+). The nucleotidesequence of petFI has been determined w...The structure gene for ferredoxin, petFI, from Anabaena siamensis has been ampli-fied by polymerase chain reaction(PCR) and cloned into cloning vector pGEM-3zf(+). The nucleotidesequence of petFI has been determined with silver staining sequencing method. There is 96. 8% homologybetween coding region of petFI from A. siamensis and that of petFI from A. sp. 7120. Amino acid se-quences of seven strains of blue-green algae are compared.展开更多
Background: Attention-deficit hyperactivity disorder (ADHD) is a widespread and debilitating disorder with relatively high prevalence in Saudi Arabia. Neuropsychological and radiological investigations have revealed t...Background: Attention-deficit hyperactivity disorder (ADHD) is a widespread and debilitating disorder with relatively high prevalence in Saudi Arabia. Neuropsychological and radiological investigations have revealed that there are some differences in the components of the brain regions in children with and without ADHD. In this study we have performed whole exome sequencing (WES) in four non-familial cases of ADHD from Makkah Region to identify the genetic polymorphisms associated with the disease in our Saudi population. Methods: Exome sequencing was carried out using Ion Proton with AmpliSeq Exome library methods, and the data were analysed by Ion Reporter 5.6 software. Results: A total of 33 variants were identified from 222 genes selected from the GWAS catalogue for ADHD associated genes. However, the SNPs we identified in these genes were not reported to be associated with ADHD in previous studies. We have identified 2 novel missense variants;one in c.3451G > T;p. (Ala1151Ser) in ITGA1 gene and another is c.988G > A;p. (Ala330Thr) in SPATA13 genes. The variants rs928661, rs11150370 and rs386792899 were the only three variants that appeared on all the 4 patients studied. Six missense variants, rs16841277, rs2228209, rs2230283, rs3741883, rs1716 and rs2272606, were found in 3 different patients, respectively. However, the three documented variants are rs13166360 with bipolar disorder, rs920829 with neuropathic pain, and rs6558702 with schizophrenia. Conclusion: We have identified 2 novel variants in ADHD children. SIFT score of all variants indicates that these substitutions have damaging effects on the protein function. Further screening studies are recommended for confirmation.展开更多
基金supported in part by funds obtained through an Italian law that allows taxpayers to allocate 0.5 percent share of their income tax contribution to a research institution of their choice
文摘Background: Androgen insensitivity syndrome(AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor(AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer(CRC) have been described.Case presentation: Here, we present a male patient with AIS who developed multiple early-onset CRCs and his pedigree. His first cousin was diagnosed with AIS and harbored the same AR gene mutation, but with no signs of CRC. The difference in clinical management for the two patients was that testosterone treatment was given to the proband for a much longer time compared with the cousin. The CRC family history was negative, and no germline mutations in well-known CRC-related genes were identified. A single nucleotide polymorphism array revealed a microduplication on chromosome 22q11.22 that encompassed a micro RNA potentially related to CRC pathogenesis. In the proband, whole exome sequencing identified a polymorphism in an oncogene and 13 rare loss-of-function variants, of which two were in CRC-related genes and four were in genes associated with other human cancers.Conclusions: By pathway analysis, all inherited germline genetic events were connected in a unique network whose alteration in the proband, together with continuous testosterone stimulation, may have played a role in CRC pathogenesis.
基金financially supported by National Key R&D Program(2021YFF0701905)。
文摘In order to save manpower and time costs,and to achieve simultaneous detection of multiple animal-derived components in meat and meat products,this study used multiple nucleotide polymorphism(MNP)marker technology based on the principle of high-throughput sequencing,and established a multi-locus 10 animalderived components identification method of cattle,goat,sheep,donkey,horse,chicken,duck,goose,pigeon,quail in meat and meat products.The specific loci of each species could be detected and the species could be accurately identified,including 5 loci for cattle and duck,3 loci for sheep,9 loci for chicken and horse,10 loci for goose and pigeon,6 loci for quail and 1 locus for donkey and goat,and an adulteration model was established to simulate commercially available samples.The results showed that the method established in this study had high throughput,good repeatability and accuracy,and was able to identify 10 animalderived components simultaneously with 100%repeatability accuracy.The detection limit was 0.1%(m/m)in simulated samples of chicken,duck and horse.Using the method established in this study to test commercially available samples,4 samples from 14 commercially available samples were detected to be inconsistent with the labels,of which 2 did not contain the target ingredient and 2 were adulterated with small amounts of other ingredients.
文摘The energy of interaction between complementary nucleotides in promoter sequences of E. coli was calculated and visualized. The graphic method for presentation of energy properties of promoter sequences was elaborated on. Data obtained indicated that energy distribution through the length of promoter sequence results in picture with minima at –35, –8 and +7 regions corresponding to areas with elevated AT (adenine-thymine) content. The most important difference from the random sequences area is related to –8. Four promoter groups and their energy properties were revealed. The promoters with minimal and maximal energy of interaction between complementary nucleotides have low strengths, the strongest promoters correspond to promoter clusters characterized by intermediate energy values.
基金Public Benefit Grant of Ministry of Health, China (200802035)Natural Science Foundation of Yunnan province (2008CD153)
文摘The complete nucleotide sequence of the mumps virus SP, which was isolated in China, was determined. As with other mumps viruses, its genome was 15 384 nucleotides (nts) in length and encoded seven proteins. The full-length nucleotide sequence of the SP isolate differed from other strains by 4% –6.8% at the nucleotide sequence level. Due to variations of amino acids over the full genome (including the HN and N genes), this isolate exhibited significant variations in the antigenic sites. This report is the first to describe the full-length genome of a genotype F strain and provide an overview of the diversity of genetic characteristics of a circulating mumps virus.
文摘Here we report the adaptation and optimization of an effi cient, accurate and inexpensive assay that employs custom-designed silicon-based optical thin-fi lm biosensor chips to detect unique transgenes in genetically modi-
基金supported by the Hunan Provincial Natural Science Foundation of China(2024JJ6257)Hunan Children’s Hospital Cultivation Project Fund(2024GZPY04)+2 种基金Opening fundings of Hunan Provincial Key Laboratory of Pediatric Orthopedics(2023TP1019)Science and Technology Project of Furong Laboratory(2023SK2111)Hunan Provincial Clinical Medical Research Center for pediatric Limb Deformities(2019SK4006)。
文摘Objective This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease(NAFLD)in children with obesity.Methods We conducted a two-step case-control study.Ninety-three participants were subjected to whole-exome sequencing(exploratory set).Differential genes identified in the small sample were validated in 1,022 participants using multiplex polymerase chain reaction and high-throughput sequencing(validation set).Results In the exploratory set,14 genes from the NAFLD-associated pathways were identified.In the validation set,after adjusting for sex,age,and body mass index,ECI2 rs2326408(dominant model:OR=1.33,95%CI:1.02–1.72;additive model:OR=1.22,95%CI:1.01–1.47),C6orf201 rs659305(dominant model:OR=1.30,95%CI:1.01–1.69;additive model:OR=1.21,95%CI:1.00–1.45),CALML5rs10904516(pre-ad dominant model:OR=1.36,95%CI:1.01–1.83;adjusted dominant model:OR=1.40,95%CI:1.03–1.91;and pre-ad additive model:OR=1.26,95%CI:1.04–1.66)polymorphisms were significantly associated with NAFLD in children with obesity(P<0.05).Interaction analysis revealed that the gene-gene interaction model of CALML5 rs10904516,COX11 rs17209882,and SCD5 rs3733228 was optional(P<0.05),demonstrating a negative interaction between the three genes.Conclusion In the Chinese population,the CALML5 rs10904516,C6orf201 rs659305,and ECI2rs2326408 variants could be genetic markers for NAFLD susceptibility.
基金This work was supported by the Provincial Natural Science Foundation of Guangdong(Contract 990944)the National Natural Science Foundation of China(Contract 20205003,29975033).
文摘Using continuous wavelet transform as the analytical tool, the fractal characteristic of nucleotide sequences was studied. The fractal dimension of the exon and intron sequences for different species was calculated. We use the Mexican hat wavelet function as the mother wavelet and Hurst exponent to describe the long-range correlation. It is found that the Hurst exponent of intron sequence is larger than that of exon sequence for the same gene.
文摘A new version of DNA walks, where nucleotides are regarded unequal in their contribution to a walk is introduced, which allows us to study thoroughly the “fine structure” of nucleotide sequences. The approach is based on the assumption that nucleotides have an inner abstract characteristic, the determinative degree, which reflects genetic code phenomenological prop-erties and is adjusted to nucleotides physical properties. We consider each codon position independently, which gives three separate walks characterized by different angles and lengths, and that such an object is called triander which reflects the “strength” of branch. A general method for identifying DNA sequence “by triander” which can be treated as a unique “genogram” (or “gene passport”) is proposed. The two- and three-dimensional trianders are considered. The difference of sequences fine structure in genes and the intergenic space is shown. A clear triplet signal in coding sequences was found which is absent in the intergenic space and is independent from the sequence length. This paper presents the topological classification of trianders which can allow us to provide a detailed working out signatures of functionally different genomic regions.
基金Project supported by the National Natural Science Foundation of China (No. 20574052)Program for New Century Excellent Talents in University,and the Natural Science Foundation of Zhejiang Prov-ince (Nos. R404047 and Y405011),China
文摘In this paper we study the scaling behavior of nucleotide cluster in 11 chromosomes of Encephalitozoon cuniculi Genome. The statistical distribution of nucleotide clusters for 11 chromosomes is characterized by the scaling behavior of P ( S ) ∝ e ?αS, where S represents nucleotide cluster size. The cluster-size distribution P(S1+S2) with the total size of sequential C-G cluster and A-T cluster S1+S2 were also studied. P(S1+S2) follows exponential decay. There does not exist the case of large C-G cluster following large A-T cluster or large A-T cluster following large C-G cluster. We also discuss the relatively random walk length function L(n) and the local compositional complexity of nucleotide sequences based on a new model. These investigations may provide some insight into nucleotide cluster of DNA sequence.
基金Project supported by the National Natural Science Foundation ofChina (Nos. 20174036 20274040)+2 种基金 and the Natural Science Founda-tion of Zhejiang Province (Nos. R404047 10102) China
文摘Using the complete genome of Plasmodium falciparum 3D7 which has 14 chromosomes as an example, we have examined the distribution functions for the amount of C or G and A or T consecutively and non-overlapping blocks of m bases in this system. The function P(S) about the number of the consecutive C-G or A-T content cluster conforms to the relation P(S)∝e? ; αs values of the scaling exponent αCG are much larger than αAT; and αAT of 14 chromosomes are hardly changed, whereas αCG of 14 chromosomes have a number of fluctuations. We found maximum value of A-T cluster size is much larger than C-G, which implies the existence of large A-T cluster. Our study of the width function ξ(m) of cluster C-G content showed that follows good power law ξ(m)∝m?γ. The average γ for 14 chromosomes is 0.931. These investigations provide some insight into the nucleotide clusters of DNA sequences, and help us understand other properties of DNA sequences.
基金Public Benefit Grant of Ministry of Health P.R China (200802035)Basic Research Foundation(General Program) of Yunnan Province (2008CD153)
文摘The complete nucleotide sequence of the measles virus strain IMB-1,which was isolated in China,was determined.As in other measles viruses,its genome is 15,894 nucleotides in length and encodes six proteins.The full-length nucleotide sequence of the IMB-1 isolate differed from vaccine strains (including wild-type Edmonston strain) by 4%-5% at the nucleotide sequence level.This isolate has amino acid variations over the full genome,including in the hemagglutinin and fusion genes.This report is the first to describe the full-length genome of a genotype H1 strain and provide an overview of the diversity of genetic characteristics of a circulating measles virus.
文摘The brown marmorated stink bug, <i><span style="font-family:Verdana;">Halyomorpha halys</span></i><span style="font-family:Verdana;"> (Stal) (Hemiptera: Pentatomidae) is an invasive species native to East Asia that has spread across Asia, Europe</span><span style="font-family:Verdana;">,</span><span style="font-family:;" "=""><span style="font-family:Verdana;"> and North America. </span><i><span style="font-family:Verdana;">H. halys </span></i><span style="font-family:Verdana;">causes damages to various grains, fruits, and vegetables, which is exemplified by the significant damage to the hazelnut harvest in Georgia (during 2016). This report describes the first attempted genetic study of the spread of </span><i><span style="font-family:Verdana;">H. halys</span></i><span style="font-family:Verdana;"> in Georgia. The first main goal of this research was to identify the haplotype of an invasive population in Georgia. For this purpose, the mitochondrial cytochrome c oxidase I subunit (</span><i><span style="font-family:Verdana;">COI</span></i><span style="font-family:Verdana;">) gene fragment from 65 samples</span><i><span style="font-family:Verdana;"> of H. halys</span></i><span style="font-family:Verdana;"> collected from different regions across Georgia was sequenced on an Applied Biosystems 3100 or 3700 genetic analyzer. In all cases, only the H1 haplotype, which is native to China, was identified. The second goal of this research was to determine the complete mitochondrial DNA sequence of </span><i><span style="font-family:Verdana;">H. halys</span></i><span style="font-family:Verdana;"> (Stal) specimens collected </span><span style="font-family:Verdana;">across Georgia. The complete mitochondrial DNA of H1 haplotype s</span><span style="font-family:Verdana;">equenced on an Illumina MiSeq platform. The mitochondrial DNA of the Georgian H1 haplotype has a length of 15</span></span><span style="font-family:Verdana;">,</span><span style="font-family:;" "=""><span style="font-family:Verdana;">478 base pairs. Using the sequence of the H22 haplotype of </span><i><span style="font-family:Verdana;">H. halys </span></i><span style="font-family:Verdana;">(native to Korea) as a reference, 62 single nucleotide polymorphisms (SNPs), three inversions</span></span><span style="font-family:Verdana;">,</span><span style="font-family:;" "=""><span style="font-family:Verdana;"> and four single T insertions were identified. Furthermore, 60 SNPs and four insertions in two tRNA and one rRNA genes were identified among 18 mitochondrial genes from the Georgian H1 haplotype. Nine of these SNPs resulted in amino acid substitutions. Furthermore, the detection of SNPs revealed many other polymorphic sites beyond the </span><i><span style="font-family:Verdana;">COI</span></i><span style="font-family:Verdana;"> gene, which can be used to detect new haplotypes.</span></span>
基金Construction Project of National Clinical Research Base of Traditional Chinese Medicine(Science Letter[2018]No.131,State Office of Traditional Chinese Medicine)Natural Science Foundation of Hebei Province:Study on the Mechanism of Action of Traditional Chinese Medicine on Disease and Syndrome(No.H2023423001)+6 种基金Key Research Project of the Ministry of Science and Technology(No.2018YFC1704100)Key Research Project of the Ministry of Science and Technology:Li Diangui Famous Old Chinese Medicine of Traditional Chinese Medicine Academic View Characteristic,Diagnosis and Treatment Methods and Experience of Prevention and Control of Major Diseases(No.2018YFC1704102)Provincial Science and Technology Program of Hebei Province:Prevention and Treatment of Gastric Cancer by Blocking the"Inflammation-Cancer Transformation"Based on the Theory of Turbidimetric Toxicity(No.21377724D)Provincial Science and Technology Program of Hebei Province:to Study the Clinical Efficacy and Mechanism of Huazhuo Jiedu Formula in the Treatment of Chronic Atrophic Gastritis based on Epidermal Growth Factor Receptor/Mitogen Activated Protein Kinase/Extracellular Signal-Regulated Kinase Signaling Pathway(No.21377740D)Scientific Research Project of Hebei Administration of Traditional Chinese Medicine:Clinical Study of Huazhuo Jiedu Formula Blocking the Pathological Evolution of Chronic Atrophic Gastritis(No.2022026)Scientific Research Project of Hebei Administration of Traditional Chinese Medicine:Study on the Medication Rules of Spleen and Stomach Diseases of Famous Yanzhao Medical Doctors Based on Data Mining(No.2022032)Scientific Research Project of Hebei Administration of Traditional Chinese Medicine:to Explore the Mechanism of Xianglian Huazhuo Formula in the Treatment of Chronic Atrophic Gastritis based on Transcriptomics(No.2023022)。
文摘OBJECTIVE:To explore the mechanism of Xianglian Huazhuo formula(香连化浊方,XLHZ)blocking the development of chronic atrophic gastritis(CAG)to gastric cancer(GC)through bioinformatics analysis and in vitro.METHODS:Pathological morphology of gastric mucosa of rats were observed.High-throughput sequencing was used to analyze the miRNA expression profile of gastric mucosa.The miRanda,miRDB and miRWalk databases were used to predict the differential target genes.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analysis were performed for differential target genes.Real-time quantitative reverse transcription polymerase chain reaction(qRTPCR)was used to verify the differentially expressed miRNAs and target genes.Western blot,EdU,wound healing and flow cytometry were used to observe the effect of XLHZ on epithelial-mesenchymal transition(EMT)markers,proliferation,migration,apoptosis and cell cycle of CAG cells in vitro.RESULTS:A total of five differentially expressed miRNAs and four differential target genes were screened in this study.GO analysis showed that the target genes were enriched in regulation of neuron development,regulation of transcription factor activity and regulation of RNA polymerase.KEGG pathways database differences in gene enrichment of target genes in the Wnt signaling pathway,Phospholipase D signaling pathway and mitogen-activated protein kinase signaling pathway.qRTPCR confirmed that miRNAs and its target genes were consistent with the screening results.In vitro,our study revealed that XLHZ could increase the expression of Ecadherin,decrease the expression of transforming growth factorβ1,vimentin andβ-catenin,inhibite the proliferation and migration of CAG cells,cause cell cycle arrest at G0/G1 and G2/M phase,induce the apoptosis of CAG cells,and prevent the progression of CAG to GC.CONCLUSION:This study provided a new idea for the mechanism of blocking the progression of CAG to GC by XLHZ,which may be related to the expression of miR-20a-3p,miR-320-3p,miR-34b-5p,miR-483-3p and miR-883-3p and their target genes transferrin receptor,nuclear receptor subfamily 4 member 2,delta like canonical Notch ligand 1 and a kinase anchor protein 12 in CAG.In the future,we will continue to investigate the linkage between the active ingredients of XLHZ and the relevant miRNAs and their target genes,so as to provide more sufficient experimental basis for clinically effective prevention of CAG to GC.
基金supported by the National Natural Science Foundation of China(No.813019)National key Scientific Instrument Special Program of China(No.2013 YQ 030923)+1 种基金the Natural Science Foundation of Hubei Province(No.2013 CFB138)Scientific Research Project of Health and Family Planning of Hubei Province(No.WJ2015Q009,JX5B37)
文摘Pain perception is influenced by multiple factors. The single nucleotide polymorphisms（SNPs） of some genes were found associated with pain perception. This study aimed to examine the association of the genotypes of ABCB1 C3435 T,OPRM1 A118 G and COMT V108/158M（valine 108/158 methionine） with pain perception in cancer patients. We genotyped 146 cancer pain patients and 139 cancer patients without pain for ABCB1 C3435T（rs1045642）,OPRM1 A118G（rs1799971） and COMT V108/158M（rs4680） by the fluorescent dye-terminator cycle sequencing method,and compared the genotype distribution between groups with different pain intensities by chi-square test and pain scores between groups with different genotypes by non-parametric test. The results showed that in these cancer patients,the frequency of variant T allele of ABCB1 C3435 T was 40.5%; that of G allele of OPRM1 A118 G was 38.5% and that of A allele of COMT V108/158 M was 23.3%. No significant difference in the genotype distribution of ABCB1 C3435T（rs1045642） and OPRM1 A118G（rs1799971） was observed between cancer pain group and control group（P=0.364 and 0.578）; however,significant difference occurred in the genotype distribution of COMT V108/158M（rs4680） between the two groups（P=0.001）. And the difference could not be explained by any other confounding factors. Moreover,we found that the genotypes of COMT V108/158 M and ABCB1 C3435 T were associated with the intensities of pain in cancer patients. In conclusion,our results indicate that the SNPs of COMT V108/158 M and ABCB1 C3435 T significantly influence the pain perception in Chinese cancer patients.
基金supported by the National Key R&D Program of China(2019YFD1001300 and 2019YFD1001303)the Construction of Molecular Database of Faba Bean and Pea and Identification of Maize Germplasm Project,Ministry of Agriculture and Rural Affairs,China(19200030)+3 种基金the Yunnan Key R&D Program,China(202202AE090003)the earmarked fund for China Agriculture Research System(CARS-08)the Crop Germplasm Resources Protection(2130135)the Major Agricultural Science and Technology Program of Chinese Academy of Agricultural Sciences(CAAS-XTCX20190025)。
文摘Owing to the limitation of a large genome size(~13 Gb),the genetic and gene mapping studies on faba bean(Vicia faba L.)are lagging far behind those for other legumes.In this study,we selected three purified faba bean lines(Yundou 8137,H0003712,and H000572)as parents and constructed two F2 populations.These two F2 populations,namely 167 F2 plants in Pop1(Yundou 8137×H0003712)and 204 F2 plants in Pop2(H000572×Yundou 8137),were genotyped using a targeted next-generation sequencing(TNGS)genotyping platform,and two high-density single nucleotide polymorphisms(SNP)genetic linkage maps of faba bean were constructed.The map constructed from Pop1 contained 5103 SNPs with a length of 1333.31 cM and an average marker density of 0.26 cM.The map constructed from Pop2 contained 1904 SNPs with a greater length of 1610.61 cM.In these two F2 populations,QTL mapping identified 98 QTLs for 14 agronomic traits related to the flowers,pods,plant types and grains.The two maps were then merged into an integrated genetic linkage map containing 6895 SNPs,with a length of 3324.48 cM.These results not only lay the foundation for fine mapping and map-based cloning of related genes,but can also accelerate the molecular marker-assisted breeding of faba bean.
文摘The introduction of next-generation sequencing(NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in the hereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. The best panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. The inclusion in panels of low penetrance or newly identified genes without specific actionability can be problematic for interpretation.Genetic counselors are an essential part of the hereditary cancer risk assessment team, helping the medical team select the most appropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients on the available tests and the potential implications of results for themselves and their family members(pre-test counseling), explain to patients the implications of the test results(post-test counseling), and assist in testing family members at risk.
文摘The structure gene for ferredoxin, petFI, from Anabaena siamensis has been ampli-fied by polymerase chain reaction(PCR) and cloned into cloning vector pGEM-3zf(+). The nucleotidesequence of petFI has been determined with silver staining sequencing method. There is 96. 8% homologybetween coding region of petFI from A. siamensis and that of petFI from A. sp. 7120. Amino acid se-quences of seven strains of blue-green algae are compared.
文摘Background: Attention-deficit hyperactivity disorder (ADHD) is a widespread and debilitating disorder with relatively high prevalence in Saudi Arabia. Neuropsychological and radiological investigations have revealed that there are some differences in the components of the brain regions in children with and without ADHD. In this study we have performed whole exome sequencing (WES) in four non-familial cases of ADHD from Makkah Region to identify the genetic polymorphisms associated with the disease in our Saudi population. Methods: Exome sequencing was carried out using Ion Proton with AmpliSeq Exome library methods, and the data were analysed by Ion Reporter 5.6 software. Results: A total of 33 variants were identified from 222 genes selected from the GWAS catalogue for ADHD associated genes. However, the SNPs we identified in these genes were not reported to be associated with ADHD in previous studies. We have identified 2 novel missense variants;one in c.3451G > T;p. (Ala1151Ser) in ITGA1 gene and another is c.988G > A;p. (Ala330Thr) in SPATA13 genes. The variants rs928661, rs11150370 and rs386792899 were the only three variants that appeared on all the 4 patients studied. Six missense variants, rs16841277, rs2228209, rs2230283, rs3741883, rs1716 and rs2272606, were found in 3 different patients, respectively. However, the three documented variants are rs13166360 with bipolar disorder, rs920829 with neuropathic pain, and rs6558702 with schizophrenia. Conclusion: We have identified 2 novel variants in ADHD children. SIFT score of all variants indicates that these substitutions have damaging effects on the protein function. Further screening studies are recommended for confirmation.
