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Association between Gene Polymorphisms and SNP-SNP Interactions of the Matrix Metalloproteinase 2 Signaling Pathway and the Risk of Vascular Senescence
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作者 LIAO Zhen Yu YANG Shuo +3 位作者 HU Song LIU Jia MAO Yong Jun SUN Shu Qin 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2024年第2期146-156,共11页
Objective This study aimed to explore the association of single nucleotide polymorphisms(SNP)in the matrix metalloproteinase 2(MMP-2)signaling pathway and the risk of vascular senescence(VS).Methods In this cross-sect... Objective This study aimed to explore the association of single nucleotide polymorphisms(SNP)in the matrix metalloproteinase 2(MMP-2)signaling pathway and the risk of vascular senescence(VS).Methods In this cross-sectional study,between May and November 2022,peripheral venous blood of151 VS patients(case group)and 233 volunteers(control group)were collected.Fourteen SNPs were identified in five genes encoding the components of the MMP-2 signaling pathway,assessed through carotid-femoral pulse wave velocity(cf PWV),and analyzed using multivariate logistic regression.The multigene influence on the risk of VS was assessed using multifactor dimensionality reduction(MDR)and generalized multifactor dimensionality regression(GMDR)modeling.Results Within the multivariate logistic regression models,four SNPs were screened to have significant associations with VS:chemokine(C-C motif)ligand 2(CCL2)rs4586,MMP2 rs14070,MMP2rs7201,and MMP2 rs1053605.Carriers of the T/C genotype of MMP2 rs14070 had a 2.17-fold increased risk of developing VS compared with those of the C/C genotype,and those of the T/T genotype had a19.375-fold increased risk.CCL2 rs4586 and MMP-2 rs14070 exhibited the most significant interactions.Conclusion CCL2 rs4586,MMP-2 rs14070,MMP-2 rs7201,and MMP-2 rs1053605 polymorphisms were significantly associated with the risk of VS. 展开更多
关键词 Vascular senescence Pulse wave velocity(PWV) single nucleotide polymorphism(snp) Matrix metalloproteinase 2(MMP-2) Extracellular matrix(ECM) Structural degradation Multifactor dimensionality reduction(MDR)
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Single Nucleotide Polymorphisms (SNPs) Discovery and Linkage Disequilib-rium (LD) in Forest Trees 被引量:7
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作者 Zhang De-qiang Zhang Zhi-yi 《Forestry Studies in China》 CAS 2005年第3期1-14,共14页
With completion of the Populus genome sequencing project and the availability of many expressed sequence tags (ESTs) databases in forest trees, attention is now rapidly shifting towards the study of individual genet... With completion of the Populus genome sequencing project and the availability of many expressed sequence tags (ESTs) databases in forest trees, attention is now rapidly shifting towards the study of individual genetic variation in natural populations. The most abundant form of genetic variation in many eukaryotic species is represented by single nucleotide polymorphisms (SNPs), which can account for heritable inter-individual differences in complex phenotypes. Unlike humans, the linkage disequilibrium (LD) rapidly decays within candidate genes in forest trees. Thus, SNPs-based candidate gene association studies are considered to be a most effective approach to dissect the complex quantitative traits in forest trees. The present study demonstrates that LD mapping can be used to identify alleles associated with quantitative traits and suggests that this new approach could be particularly useful for performing breeding programs in forest trees. In this review, we will describe the fundamentals, patterns of SNPs distribution and frequency, summarize recent advances in SNPs discovery and LD and comment on the application of LD in the dissection of complex quantitative traits in forest tress. We also put forward the outlook for future SNPs-based association analysis of quantitative traits in forest trees. 展开更多
关键词 single nucleotide polymorphisms snps) linkage disequilibrium (LD) quantitative traits association studies forest tree
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Single Nucleotide Polymorphisms (SNPs) of URAT1 (rs7932775) and ABCG2 (rs3825016) on Chronic Kidney Disease Patients with Hyperuricemia 被引量:3
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作者 Chunqing Li Qiong Tang +5 位作者 Hongwei Jiang Jing Wu Junlin Zhang Fenglai Yuan Yuan Du Haochang Du 《Chinese Medicine》 2018年第3期118-125,共8页
Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseas... Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseases. We aim at identifying Single Nucleotide Polymorphism (SNP) difference of hURAT1 (rs7932775) and ABCG2 (rs3825016) on CKD patient with hyperuricemia and/or gout. Methods: All forty-two CKD patients were divided into two groups: hyperuricemia, and control group. 24 hours urine sample and serum were prepared for testing biochemistry parameters. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method is used to analyze hURAT1 and ABCG2 single nucleotide polymorphisms in different groups. Results: 17 patients have CT SNP of hURAT1 (rs7932775) and 13 patients have CT SNP of ABCG2 (rs3825016) in hyperuricemia group, while only 5 persons and 6 persons have the same mutations in control group respectively. 7 patients have CT SNP of both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group, while only 2 persons have the same mutations in control group. CT mutation rates of hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 60.7% (17/28) and 50% (13/28) respectively, higher than that of control group (35.7% (5/14) and 42.8% (6/14)). What is more, Double SNP mutations in both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 25% (7/28), higher than that of control group (14.2%, 2/14). Conclusion: There are higher mutation rates of CT SNP in hURAT1 (rs7932775) and/or ABCG2 (rs3825016) in hyperuricemia group. We can conclude that hyperuricemia is a high risk factor in progress of CKD, which is necessary to take measures of decreasing serum uric acid to delay CKD progress. 展开更多
关键词 HYPERURICEMIA Chronic Kidney Disease (CKD) single nucleotide polymorphisms (snp) Human URATE Transport Protein (Hurat1) ATP Binding TRANSPORTER G Super Family (ABCG2)
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Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer
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作者 Vittoria Disciglio Andrea Devecchi +10 位作者 Orazio Palumbo Massimo Carella Donata Penso Massimo Milione Giorgio Valle Marco Alessandro Pierotti Marco Vitellaro Lucio Bertario Silvana Canevari Stefano Signoroni Loris De Cecco 《Chinese Journal of Cancer》 SCIE CAS CSCD 2016年第10期546-559,共14页
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
关键词 ANDROGEN INSENSITIVITY syndrome ANDROGEN receptor Colorectal cancer single nucleotide polymorphism array TESTOSTERONE Whole EXOME sequencing
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Development of organelle single nucleotide polymorphism (SNP) markers and their application for the identification of cytoplasmic inheritance patterns in Pyropia yezoensis (Bangiales,Rhodophyta)
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作者 Lu WANG Junhao WANG +4 位作者 Yunke ZHU Zhengcai CUI Fanna KONG Xianghai TANG Yunxiang MAO 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2021年第4期1447-1457,共11页
The genus Pyropia contains several important cultivated species.Genetic research in nori species has mainly focused on the cell nucleus,with few studies on organelles(chloroplast and mitochondria).Due to the high copy... The genus Pyropia contains several important cultivated species.Genetic research in nori species has mainly focused on the cell nucleus,with few studies on organelles(chloroplast and mitochondria).Due to the high copy numbers of organelles in cells,which influence the development and traits of algae,it is necessary to study their genetic mechanism.In this study,the marine red alga Pyropia yezoensis,an important economic macroalga,was selected as the study object.To investigate organelle(chloroplast and mitochondria)inheritance in P.yezoensis,the wild type RZ(maternal strain)was crossed with the red mutant HT(paternal strain)and 30 color-sectors from 11 F1 gametophytic blades were examined.The complete chloroplast and mitochondrial genomes of the red mutant(HT)were assembled for the first time.One reliable and stable single nucleotide polymorphism(SNP)loci filtrated by bioinformatics analysis was used as a molecular marker for chloroplast and mitochondrial DNA,respectively,in subsequent experiments.PCR amplification and sequence analysis showed that the haplotypes of color-sectors detected were consistent with those of the maternal parent,confirming that both chloroplast and mitochondrial genomes were inherited maternally in P.yezoensis.The inheritance pattern of organelles in P.yezoensis can be used to guide the hybridization and breeding of nori.Additionally,the organelle SNP markers developed in this study can be applied in subsequent genetic research. 展开更多
关键词 Pyropia yezoensis organelle single nucleotide polymorphism(snp)markers chloroplast mitochondrial organelle inheritance maternal inheritance
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Use of stochastic simulations to investigate the power and design of a whole genome association study using single nucleotide polymorphism arrays in farm animals
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作者 AUVRAY Beno■t DODDS Ken G. 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2007年第11期802-806,共5页
This paper presents a quick, easy to implement and versatile way of using stochastic simulations to investigate the power and design of using single nucleotide polymorphism (SNP) arrays for genome-wide association stu... This paper presents a quick, easy to implement and versatile way of using stochastic simulations to investigate the power and design of using single nucleotide polymorphism (SNP) arrays for genome-wide association studies in farm animals. It illustrates the methodology by discussing a small example where 6 experimental designs are considered to analyse the same resource consisting of 6006 animals with pedigree and phenotypic records: (1) genotyping the 30 most widely used sires in the population and all of their progeny (515 animals in total), (2) genotyping the 100 most widely used sires in the population and all of their progeny (1102 animals in total), genotyping respectively (3) 515 and (4) 1102 animals selected randomly or genotyping respectively (5) 515 and (6) 1102 animals from the tails of the phenotypic distribution. Given the resource at hand, designs where the extreme animals are genotyped perform the best, followed by designs selecting animals at random. Designs where sires and their progeny are genotyped perform the worst, as even genotyping the 100 most widely used sires and their progeny is not as powerful of genotyping 515 extreme animals. 展开更多
关键词 snp 数量性状 能量 基因组
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Expression analysis,single nucleotide polymorphisms within SIRT4 and SIRT7 genes and their association with body size and meat quality traits in Qinchuan cattle 被引量:4
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作者 GUI Lin-sheng XIN Xiao-ling +2 位作者 WANG Jia-li HONG Jie-yun ZAN Lin-sen 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2016年第12期2819-2826,共8页
Silent information regulator 2 (Sir2) proteins, or sirtuins, are nicotine adenine dinucleotide (NAD)-dependent deacetylases that connect metabolism with longevity in lower organisms. In mammals, there are seven Si... Silent information regulator 2 (Sir2) proteins, or sirtuins, are nicotine adenine dinucleotide (NAD)-dependent deacetylases that connect metabolism with longevity in lower organisms. In mammals, there are seven Sir2 homologs, namely, silent information regulators (SIRT1-7). SIRT4 and SIRT7 genes play a crucial role in regulating lipid metabolism, cellular growth and metabolism. This suggests that they are potential candidate genes for affecting body size and meat quality traits in animals. Hence, this study aimed to detect genetic variations of both SIRT4 and SIRT7 bovine genes in Qinchuan cattle, and to evaluate the effect of these variations on economically important body size and meat quality traits. Expression analysis using quantitative real-time PCR (qPCR) indicated that SIRT4 and SIRT7 were broadly expressed in all thirteen studied tissues. The expression of SIRT4 was higher in liver, muscle, and in subcutaneous fat tissue. In the case of SIRT7, the expression was higher in lung, abomasum, and subcutaneous fat. Using DNAsequencing, a total of three single nucleotide polymorphisms (SNPs) were identified within SIRT4 and SIRT7 genes in 468 Qinchuan cattle. These included one novel SNP within 3' untranslated regions (UTR) of SIRT4 (SNP1: g. 13915A〉G) and two novel synonymous substitutions in SIRT7 (SNP2: g.3587C〉T and SNP3: g.3793T〉C). Statistical analyses indicated that all three SNPs could significantly influence some body size and meat quality traits in Qinchuan cattle. These novel findings will provide a background for application of bovine SIRT4 and SIRT7 genes in the selection program of Chinese cattle. 展开更多
关键词 SIRT4 SIRT7 single nucleotide polymorphisms snps) beef cattle
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Single nucleotide polymorphisms in intron 1 and intron 2 of Larimichthys crocea growth hormone gene are correlated with growth traits 被引量:10
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作者 倪静 尤锋 +5 位作者 许建和 徐冬冬 文爱韵 吴志昊 徐永立 张培军 《Chinese Journal of Oceanology and Limnology》 SCIE CAS CSCD 2012年第2期279-285,共7页
The growth hormone gene (GH) affects animal growth and is a potential target for genetic studies of variation related to growth traits. In this study, we analyzed single nucleotide polymorphisms (SNPs) in GH intron re... The growth hormone gene (GH) affects animal growth and is a potential target for genetic studies of variation related to growth traits. In this study, we analyzed single nucleotide polymorphisms (SNPs) in GH intron regions and their associations with growth traits in large yellow croaker, Larimichthys crocea, from Zhejiang and Fujian stocks. The results of PCR-single strand conformation polymorphism showed two haplotypes of intron 1, named AA and AB genotypes, in Zhejiang stock. AB exhibited an SNP at position 196 (G A) that was negatively correlated with body height and positively correlated with standard length/body height (P 0.05). Two different genotypes, CC and CD, were identified in intron 2 in Fujian stock, with CD showing an SNP at position 692 (T C). The CD genotype had a significantly positive correlation with both weight and total length (P 0.01). These basic data highlight the potential for using GH as a genetic marker of fish growth in marker assisted selection. 展开更多
关键词 生长激素基因 单核苷酸多态性 生长性状 内含子 大黄鱼 单链构象多态性 聚合酶链反应 标记辅助选择
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Association between single nucleotide polymorphisms on chromosome 17q and the risk of prostate cancer in a Chinese population 被引量:4
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作者 Chang-Hu Zhou Jian-Ye Wang +8 位作者 Su-Yan Cao Xiao-Hong Shi Yao-Guang Zhang Ming Liu Xin wang Jin Huang Yi-Ge Yang Dong Wei Ze Yang 《Chinese Journal of Cancer》 SCIE CAS CSCD 北大核心 2011年第10期721-730,共10页
In European populations,7 single nucleotide polymorphisms(SNPs) on chromosome 17q,3 SNPs on 17q12,and 4 SNPs on 17q24.3 were recently identified to be closely related to the risk of prostate cancer by a genome-wide as... In European populations,7 single nucleotide polymorphisms(SNPs) on chromosome 17q,3 SNPs on 17q12,and 4 SNPs on 17q24.3 were recently identified to be closely related to the risk of prostate cancer by a genome-wide association study.In Japanese populations,the correlation between 2 SNPs on 17q and the risk of prostate cancer and tumor aggressiveness was also confirmed by a large-scale experiment.However,whether 17q is associated with prostate cancer and its clinical manifestations in Chinese populations is still unknown.Therefore,we conducted a case-control study in a northern Chinese population and tested 2 SNPs,rs4430796 and rs1859962,on 17q in 124 prostate cancer patients and 111 controls using polymerase chain reaction-high resolution melting curve(PCR-HRM) combined with sequencing.We analyzed the association of the 2 SNPs with the risk of prostate cancer as well as patients' lifestyles,onset ages,Gleason scores,PSA levels,and pathologic stages.We found a significant difference in the G allele of SNP rs1859962(P = 0.035,OR = 1.51,95% CI = 1.03-2.21) but not in the rs4430796 genotype frequency or allele frequency distribution between prostate cancer patients and the controls(P > 0.05).Neither of the SNPs was significantly associated with the onset age,Gleason score,PSA level,pathologic stage,or other clinical indicators of patients with prostate cancer(P > 0.05).Our results show that polymorphism of the G allele of SNP rs1859962 is associated with the risk of prostate cancer in a Chinese population. 展开更多
关键词 单核苷酸多态性 前列腺癌 中国人群 中国人口 染色体 风险 等位基因频率 snpS
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Single Nucleotide Polymorphisms in a Male Infertility-Related Gene CatSper 被引量:1
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作者 WeiCHEN HongLI +2 位作者 Song-shanJIANG Shi-lingCHEN Fu-qiXING 《Journal of Reproduction and Contraception》 CAS 2004年第1期27-32,共6页
Objective To identify single nucleotide polymorphisms (SNPs) of human CatSper gene, themouse homologous gene product, which plays a crucial role in mouse male sterility.Methods We demonstrated a systematic screening o... Objective To identify single nucleotide polymorphisms (SNPs) of human CatSper gene, themouse homologous gene product, which plays a crucial role in mouse male sterility.Methods We demonstrated a systematic screening of SNPs in coding regions and flankingintronic regions of human CatSper gene in a sample subset from a total 210 male individuals byDNA sequencing. Then we used PCR single-strand conformation polymorphism (SSCP) analy-sis to determine the allele frequencies of the possible SNPs among the whole 210 Chinese Hanmale individuals.Results Three SNPs, including two novels, were identified and their allele frequencies weredetermined in the 210 Chinese Han male individuals. These SNPs were assembled into largeSNP database that promises to enable the dissection of the genetic basis of disease. 展开更多
关键词 CatSper INFERTILITY sperm motility single nucleotide polymorphisms (snps)
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SNP分型检测技术及其在大鼠遗传检测中的应用
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作者 李欢 岳秉飞 《实验动物科学》 2024年第1期104-107,共4页
单核苷酸多态性(SNP)是第三代分子遗传标记,由于其广泛性、遗传稳定性、二态性及易于自动化分型的特点,成为当前实验动物遗传检测领域中重要研究的遗传标记。本文概述了SNP概念及特点,重点阐述不同种类SNP分型技术,并对该技术在大鼠遗... 单核苷酸多态性(SNP)是第三代分子遗传标记,由于其广泛性、遗传稳定性、二态性及易于自动化分型的特点,成为当前实验动物遗传检测领域中重要研究的遗传标记。本文概述了SNP概念及特点,重点阐述不同种类SNP分型技术,并对该技术在大鼠遗传检测研究中的应用进行回顾和展望。 展开更多
关键词 大鼠 单核苷酸多态性(snp) snp基因分型 遗传质量检测
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Single nucleotide polymorphisms of MAGE-A3 gene and its clinical implications in Chinese patients with non-small cell lung cancer(NSCLC)
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作者 Xue-Ning Yang Ling Huang +5 位作者 Yu Chen She-Juan An Xu-Chao Zhang Ri-Qiang Liao Jian Su Yi-Long Wu 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2015年第3期301-308,共8页
Background: Available study revealed advanced tumors have a higher expression rate of MAGE-A3 gene which has a lot of single nucleotide polymorphism(SNP) loci with polymorphisms. This study aimed to analyze the all... Background: Available study revealed advanced tumors have a higher expression rate of MAGE-A3 gene which has a lot of single nucleotide polymorphism(SNP) loci with polymorphisms. This study aimed to analyze the allele frequency of SNP loci in MAGE-A3 gene and investigate the relationship between MAGE-A3 gene polymorphisms and clinical factors.Methods: Tumor samples of a cohort of 191 NSCLC patients were collected. EGFR m RNA expression were detected by q RT-PCR. SNPs in whole length of MAGE-A3 gene were detected by direct sequencing. Frequencies of the SNPs were correlated to gene expression, mutation status of EGFR and clinical factors.Results: Sequencing analysis confirmed that allele frequencies of genotypes on SNP loci rs5970360, rs5925210, rs5970361, rs5925211 and rs35123853 were CC(0.681)/CT(0.319), CC(0.660)/CG(0.340), CC(0.681)/CA(0.319), AA(0.984)/AT(0.016) and GG(1.000)/GA(0.000), respectively, which were different from the frequencies and genotypes of MAGE-A3 in SNP database. Chi-square tests showed the EGFR mR NA expression level had significant correlation with the genotypes of SNP loci rs5970360 and rs5925210. But all frequencies of each MAGE-A3 SNPs were not found significantly different between EGFR mutant and wild type patients. MAGE-A3 gene polymorphisms had no significant effects on survival of NSCLC patients.Conclusions: Chinese patients with NSCLC had different SNP patterns of MAGE-A3 in comparison with those in international SNP database. These MAGE-A3 SNP loci might have not prognostic significance. MAGE-A3 SNP loci rs5970360 and rs5925210 might be predictive for EGFR m RNA expression levels and helpful to the selection of patients for epidermal growth factor receptor(EGFR) targeted immunotherapy. 展开更多
关键词 MAGE-A3 epidermal growth factor receptor (EGFR) non-small cell lung cancer (NSCLC) single nucleotide polymorphism snp
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利用55K SNP芯片研究小麦新品种信麦163的遗传构成
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作者 陈真真 李杰 +6 位作者 王轲 陈金平 申冠宇 谢旭东 石守设 杨军 周国勤 《山东农业科学》 北大核心 2024年第5期42-48,共7页
为明确国审小麦新品种信麦163的分子遗传基础,利用小麦55K SNP育种芯片对信麦163及其母本信阳234和父本丰抗38进行分析。结果表明,信阳234和丰抗38对信麦163的遗传贡献率分别为49.60%和50.40%。在基因组和染色体水平上,双亲对信麦163的... 为明确国审小麦新品种信麦163的分子遗传基础,利用小麦55K SNP育种芯片对信麦163及其母本信阳234和父本丰抗38进行分析。结果表明,信阳234和丰抗38对信麦163的遗传贡献率分别为49.60%和50.40%。在基因组和染色体水平上,双亲对信麦163的遗传贡献率差异较大:母本信阳234对信麦163 A、B、D三个基因组的贡献率分别为49.34%、52.52%和45.61%,贡献率超过50%的染色体有4A、5A、7A、4B、5B、6B、7B、1D、5D、6D和7D,其中在7A、7B、7D上遗传贡献率超过60%;父本丰抗38对信麦163 A、B、D三个基因组的贡献率分别为50.66%、47.48%和54.39%,贡献率超过50%的染色体有1A、2A、3A、6A、1B、2B、3B、2D、3D和4D,其中在4D染色体上遗传贡献率超过80%。在3A、4D、6B等染色体上的遗传形式主要表现为亲本遗传信息以染色体大片段形式传递到子代。SNP(单核苷酸多态性)基因型图谱、SNP位点分析与遗传贡献率分析结果具有较好的一致性。本研究结果展示了杂交育种对后代基因组造成的影响,可为信麦163在遗传改良和生产中的应用提供科学依据。 展开更多
关键词 信麦163 遗传贡献 55K育种芯片 单核苷酸多态性(snp)
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Corelation Between Single Nucleotide Polymorphisms in Mu Opioid Receptor Exon 2 and Stereotypic Behaviour in Sows
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作者 LI Jianhong BAO Jun CUI Weiguo 《Journal of Northeast Agricultural University(English Edition)》 CAS 2008年第4期20-27,共8页
Three breeds of sows were observed to investigate the relationship between Single Nucleotide Polymorphisms(SNPs) in Mu Opioid Receptor(MOR)and stereotypic behaviour,such as,sham-chewing,bar biting and standing sti... Three breeds of sows were observed to investigate the relationship between Single Nucleotide Polymorphisms(SNPs) in Mu Opioid Receptor(MOR)and stereotypic behaviour,such as,sham-chewing,bar biting and standing still in order to better understand the mechanism of stereotypic development of the animals in restrained conditions.MOR exon 2 partial sequences were amplified to analyze single nucleotide polymorphisms by PCR-SSCP.One SNP,a silence mutant was found.A significant difference (P〈0.01)was found in the frequency of genotypes in these 3 breeds where only the BB genotype,which was identical to that published in GenBank,was found in the Duroc breed,while no AA genotype was found in Landrace,3 genotypes AA,BB and AB were found in Yorkshire.The result also indicated that the individuals with AA and AB genotypes tended to be more active in sham-chewing than those with the BB genotype(P〈0.05).The overall results of this study suggested that sham-chewing of sows may be subjected to both genetic control and environmental conditions,but activity level was more likely to be affected by their environment.We can putatively draw the conclusion that MOR gene has effect on the sham-chewing behavioral traits of sow. 展开更多
关键词 Mu Opioid Receptor(MOR) single nucleotide polymorphismsnp stereotypic behaviour SOWS
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Digital Barcode Development for Single Nuclotide Polymorphism (SNP) Identification of Suzhong Swine Individuals
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作者 Hu Yinong Ding Qian +3 位作者 Ji Hongjun Wang Xiaoxiao Zhu Zhenkun Zhao Qingshun 《Animal Husbandry and Feed Science》 CAS 2016年第6期323-326,共4页
Suzhong swine is a hybrid breed derived from Taihu sows and Landraee boars. To identify Suzhong swine individuals and trace the source of pork products, single nucleotide polymorphisms (SNPs) identification of Suzho... Suzhong swine is a hybrid breed derived from Taihu sows and Landraee boars. To identify Suzhong swine individuals and trace the source of pork products, single nucleotide polymorphisms (SNPs) identification of Suzhong swine individuals was studied. A total of 29 pairs of primers were designed and sev- en pairs of primers were used for identification of Suzhong swine individuals. The products amplified by seven pairs of primers could be directly sequenced, with clean sequencing map background and no ambiguity in sequence read. Totally 52 SNPs loci were amplified by seven pairs of primers, and 41 SNPs loci were reserved for identification of Suzhong swine individuals through correlation analysis and heterezygosity filtration ( H ≥0.1 ). Meantime, the digital barcodes for SNP identification of 96 individuals of Suzhong swine derived from seven boars and 12 sows were developed, which well distinguished 96 individuals of Suzhong swine. Theoretically, 41SNPs amplified by seven pairs of primers could be used for identification of 5.0 × 10^6 pig individuals. Therefore, digital barcode devel- opment method for SNP identification of Suzbong swine individuals can be used for individual identification of Suzhong swine in scale pig farm and meat product traceability. 展开更多
关键词 Suzhong swine Individual identification Digital barcode single nucleotide polymorphism snp
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Association of Single Nucleotide Polymorphisms in IRF6 and TGFA Genes With Nonsyndromic Cleft Lip With Or Without Cleft Palate in Chinese Patients
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作者 Ya Shen Yugui Cui +4 位作者 Weidong Wan Xiaoping Zhou Lu Cheng Zuhong Lu Jiayin Liu 《Journal of Nanjing Medical University》 2009年第1期40-45,共6页
Objective: Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is a common birth defect with unclear etiology. Both genetic and environmental factors may contribute to NSCL/P. Many genes have been identifie... Objective: Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is a common birth defect with unclear etiology. Both genetic and environmental factors may contribute to NSCL/P. Many genes have been identified as candidate genes associated with this disease. Interferon regulatory factor 6(IRF6) gene and transforming growth factor-a(TGFA) gene seem to be crucial in the predisposition of NSCL/ P. Here we evaluated some single nucleotide polymorphisms(SNPs) loci of TGFA and IRF6 genes in Chinese nuclear families consisting of fathers, mothers and affected offspring with NSCL/P. Methods:Fifty patients of NSCL/P were confirmed by the plastic surgeons. They and their parents were included in the study, all with the informed consents. SNPs loci of TGFA and IRF6 genes were analyzed by microarray technology. Some PCR products were randomly chosen and sequenced to check microarray results. The distribution of gene type and allele frequency between patient group and parents group were compared. Then a Haplotype Relative Risk(HRR) and Transmission Disequilibrium Test(TDT) were performed. Results:The sequences of randomly selected PCR products were all consistent with the microarray results. All loci were in Hardy-Weinberg equilibrium. There were no significant differences in the distribution of genotypes and alleles between patients and their parents. Using HRR and TDT analyses the V274I of IRF6 was associated with NSCL/P, while another SNP locus oflRF6 was not. Strong evidence of linkage disequilibrium was found between the 2 SNP loci of TGFA and disease with the HRR analysis, but not with the TDT analysis. Conclusion:Our study confirms the contribution of IRF6 in the etiology of NSCL/P in populations of Asian ancestry. The association of TGFA with NSCL/P requires further research. 展开更多
关键词 Nonsyndromic cleft lip with or without cleft palate(NSCL/P) transforming growth factor-a(TGFA) Interferon regulatory factor 6(IRF6) single nucleotide polymorphisms(snps)
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Single Nucleotide Polymorphism Genotyping of Calpastatin Gene Using the ARMS Compared with the RFLP
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作者 P. Tavitchasri J. Sethakul +1 位作者 C. Kanthapanit W. Wajjwalku 《Journal of Agricultural Science and Technology(A)》 2011年第2X期164-169,共6页
关键词 钙蛋白酶抑制蛋白基因 单核苷酸多态性 RFLP 武器系统 基因分型 DNA检测 基因型分析 核苷酸序列分析
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Null Single Nucleotide Polymorphism in Chemokine Receptor 5 (CCR5) Genes among the Ijaw Ethnic Population of Nigeria
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作者 Kenneth Onowosome Zifawei Opuada Stowe +2 位作者 Teddy Charles Adias Mirabeau Youtchou Tatfeng Zaccheaus Awortu Jeremiah 《Open Journal of Blood Diseases》 2016年第4期59-66,共9页
Background: A deletion of 32 bp in the nucleotide sequence of CCR5 gene results in a defective CCR5 which confers protection from HIV infection in the homozygous state, while reducing the rate of disease progression t... Background: A deletion of 32 bp in the nucleotide sequence of CCR5 gene results in a defective CCR5 which confers protection from HIV infection in the homozygous state, while reducing the rate of disease progression to AIDS and death in the heterozygous state. The status of the CCR5Δ32 gene has not been reported in Nigeria. Aim: This study was aimed at analyzing single nucleotide polymorphism of CCR5 gene among the Ijaws resident in Yenagoa, Nigeria. Methods: 100 subjects (75 HIV negative and 25 HIV positive control) were recruited for this study. The CCR5 genes were amplified by 2 Stage PCR reaction using GeneAmp 9700 PCR system utilizing specific primers that would flank 32 bp deletion, followed by agarose gel electrophoresis, DNA sequencing of 20 subjects was done followed by phylogenetic and polymorphism analysis. Results: The results showed that 75 (100%) of the HIV negative subjects had 189 base pair in their CCR5 gene. Nucleotide of the 20 (100%) of the sequenced samples were conservatively same and no SNP was observed. Conclusion: This study documented no SNPs in CCR5 gene of the study population hence;the study population has no protection from HIV infection. 展开更多
关键词 CCR5 single nucleotide polymorphism (snp) PCR Amplicon
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基于转录组SNP构建油茶主要品种资源的分子身份证 被引量:5
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作者 林萍 王开良 +1 位作者 姚小华 任华东 《中国农业科学》 CAS CSCD 北大核心 2023年第2期217-235,共19页
【目的】近年来,油茶(Camellia oleifera)产业发展迅速,已成为中国四大油料之一。油茶良种不断涌现,但品质参差不齐,“同名异物、同物异名”等现象时有发生。建立油茶品种资源的单核苷酸多态性(single-nucleotide polymorphism,SNP)分... 【目的】近年来,油茶(Camellia oleifera)产业发展迅速,已成为中国四大油料之一。油茶良种不断涌现,但品质参差不齐,“同名异物、同物异名”等现象时有发生。建立油茶品种资源的单核苷酸多态性(single-nucleotide polymorphism,SNP)分子标记数据库,筛选重要SNP位点,开发油茶品种资源DNA指纹图谱,构建油茶品种资源的分子身份证,为品种鉴别、品种追溯等提供分子水平鉴别技术支撑。【方法】以221份普通油茶品种资源为材料,提取未成熟种子RNA,进行转录组测序。以二倍体南荣油茶基因组为参考,识别供试油茶品种资源的SNP位点并基因分型,利用SNP数据分析油茶群体及亚群的遗传多样性,分析SNP位点的观测杂合度、期望杂合度、多态信息含量(PIC)等信息,筛选核心SNP位点并采用Sanger测序验证,得到最优SNP位点组合后,结合品种资源基本信息构建油茶品种资源分子身份证。【结果】从油茶转录组中共检测到1 849 953个高质量SNP位点。群体遗传多样性分析发现,油茶群体观测杂合度为0.2966,期望杂合度为0.2462,固定指数为-0.2048,PIC为0.2073,最小等位基因频率为0.1648。参试群体的各亚群间遗传分化较小,存在较高的基因流,主要变异存在于亚群内。根据PIC、连锁不平衡衰退距离(LD)等参数从所有SNP位点中筛选出31个多态性高的核心位点,Sanger测序验证其中8个核心位点基因分型的准确率在91.36%以上。利用核心位点组成DNA指纹图谱,可区分出全部参试油茶品种资源。DNA指纹图谱结合油茶品种资源基本信息,构建成由66位数字组成的油茶品种资源分子身份证。【结论】依据SNP标记的PIC、LD等指标,筛选出31个核心SNP位点,精准区分全部供试油茶品种资源。将31个SNP位点所构建的油茶品种资源DNA指纹图谱与品种资源的起源、资源类型和亚群分布等基本属性信息相结合,构建了每份油茶品种资源唯一的分子身份证,并生成相应的条形码和二维码。 展开更多
关键词 普通油茶 品种鉴别 单核苷酸多态性 指纹图谱 分子身份证
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Development of a 50K SNP Array for Japanese Flounder and Its Application in Genomic Selection for Disease Resistance 被引量:4
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作者 Qian Zhou Ya-dong Chen +7 位作者 Sheng Lu Yang Liu Wen-teng Xu Yang-zhen Li Lei Wang Na Wang Ying-ming Yang Song-lin Chen 《Engineering》 SCIE EI 2021年第3期406-411,共6页
Single nucleotide polymorphism(SNP)armays are a powerful genotyping tool used in genetic research and genomic breeding programs.Japanese flounder(Paralichthys olivaceus)is an economically-important aquaculture flatfis... Single nucleotide polymorphism(SNP)armays are a powerful genotyping tool used in genetic research and genomic breeding programs.Japanese flounder(Paralichthys olivaceus)is an economically-important aquaculture flatfish in many countries.However,the lack of high-efficient genotyping tools has impeded the genomic breeding programs for Japanese flounder.We developed a 50K Japanese flounder SNP array,"Yuxin No.1,"and report its utility in genomic selection(GS)for disease resistance to bacterial pathogens.We screened more than 42,.2 million SNPs from the whole-genome resequencing data of 1099 individuals and selected 48697 SNPs that were evenly distributed across the genome to anchor the array with Affymetrix Axiom genotyping technology.Evaluation of the array performance with 168 fishs howed that 74.7%of the loci were successfully genotyped with high call rates(>98%)and that the poly-morphic SNPs had good cluster separations.More than 85%of the SNPs were concordant with SNPs obtained from the whole-genome resequencing data.To validate"Yuxin No.1"for GS,the arrayed geno-typing data of 27 individuals from a candidate population and 931 individuals from a reference popula-tion were used to calculate the genomic estimated breeding values(GEBVs)for disease resistance toEdwardsiella tarda.There was a 21.2%relative increase in the accuracy of GEBV using the weighted geno-mic best linear unpiased prediction(wGBLUJP),compared to traditional pedigree-based best linear unbi-ased prediction(ABLUP),suggesting good performance of the'Yuxin No.1"SNP array for GS.In summary,we developed the"Yuxin No.1"50K SNP array,which provides a useful platform for high-quality geno-typing that may be beneficial to the genomic selective breeding of Japanese flounder. 展开更多
关键词 Paralichthys olivaceus single nucleotide polymorphism snp array Disease resistance Genomic selection
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