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与HIV-1感染相关的甘露糖结合蛋白基因多态性分析
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作者 施红 王福生 +6 位作者 王哲 金磊 褚福亮 王昌青 洪卫国 崔为国 刘明旭 《中国艾滋病性病》 CAS 2003年第1期8-11,共4页
目的 分析中国汉族和维吾尔族人群中甘露糖结合蛋白 (MBP)基因的等位基因多态性特点 ,初步探讨MBP基因多态性与艾滋病病毒 1型 (HIV 1)感染之间的相关性。方法 从 85 6例个体 (汉族 60 6例、维吾尔族 2 5 0例 )的外周血中提取基因组... 目的 分析中国汉族和维吾尔族人群中甘露糖结合蛋白 (MBP)基因的等位基因多态性特点 ,初步探讨MBP基因多态性与艾滋病病毒 1型 (HIV 1)感染之间的相关性。方法 从 85 6例个体 (汉族 60 6例、维吾尔族 2 5 0例 )的外周血中提取基因组脱氧核糖核酸 (DNA) ,应用聚合酶链反应 限制性内切酶片段长度多态性 (PCR RFLP)分析检测MBP基因外显子 1区域第 5 2、5 4、5 7密码子部位的 3个等位基因多态性 ,并随机抽样经DNA直接测序进行验证。结果 在健康人群中 ,MBP 5 4等位基因突变频率汉族为 0 189,维吾尔族为 0 12 1。该等位基因多态性分布在这两个民族中均符合Hardy Weinberg平衡 ,两个民族在健康人群中的基因型分布和突变基因频率差异均有显著的统计学意义 ( χ2 =5 5 3 ,P =0 0 2 2 )。汉族的HIV 1感染组、高危对照组和相应的健康人群之间 ,MBP 5 4等位基因的突变频率差异无显著的统计学意义。维吾尔族高危对照组与健康人群相比 ,MBP 5 4基因的突变频率差异亦无显著的统计学意义。维吾尔族HIV 1感染组与高危对照组以及与相应的健康人群相比 ,MBP 5 4基因的突变频率的差异均有显著的统计学意义。在所检测的人群中 ,均未发现MBP基因的第 5 2、5 7密码子部位有基因突变。结论 在汉族和维吾尔族人群中MBP 展开更多
关键词 甘露糖结合蛋白 艾滋病病毒1型 基因多态生
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The Relationship between Genetic Polymorphisms of Three Gene Loci and Growth Characters of Haimen Goats
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作者 李拥军 李太坤 +3 位作者 张丽 李文婷 张浩 施健飞 《Agricultural Science & Technology》 CAS 2010年第6期112-114,182,共4页
[Objective] The paper aims to study the relationship between genetic polymorphisms of three gene loci and growth character of Haimen Goats to provide reference to promote Haimen Goat growth character and cultivate Hai... [Objective] The paper aims to study the relationship between genetic polymorphisms of three gene loci and growth character of Haimen Goats to provide reference to promote Haimen Goat growth character and cultivate Haimen Goat new strain of fast-growth.[Method] We processed analysis and related statistical analysis on three gene loci of Haimen Goats with PCR-RFLP and PCR-SSCP.[Result] The results suggested that there were two genotypes in MSTN gene IntronⅡ,GH gene exonⅠ and GH gene exonⅡ in Haimen Goats.Different genotypes of these gene loci had different effects on relative growth character of Haimen Goats.[Conclusion] This study had a significant meaning about promoting Haimen Goat avoirdupois by marker assistant option. 展开更多
关键词 Haimen goats MSTN GH POLYMORPHISMS Growth character
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Analysis on Polymorphisms of GHR Gene in Improved Hybrid Yellow Cattle Groups from Liupan Mountain Area in Ningxia 被引量:1
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作者 张春珍 李聚才 +1 位作者 杨易 于建勇 《Agricultural Science & Technology》 CAS 2011年第3期413-416,共4页
[Objective] The paper aimed to analyze the polymorphism of the growth hormone receptor (GHR) in improved hybrid yellow cattle group from Liupan Mountain area in Ningxia Autonomous Region,so as to provide technologic... [Objective] The paper aimed to analyze the polymorphism of the growth hormone receptor (GHR) in improved hybrid yellow cattle group from Liupan Mountain area in Ningxia Autonomous Region,so as to provide technological basis for hybrid improvement. [Method] Polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) technology was carried out to examine polymorphisms of GHR gene of 70 individuals. [Result] The target fragment of 338 bp was amplified. The PCR product digested by restriction enzyme Alu I showed polymorphisms. The frequencies of the two genotypes (AA,BB) were 75.71% (53 individuals) and 24.29% (17 individuals),respectively. [Conclusion] Two genotypes of GHR gene were detected in improved hybrid yellow cattle groups from Liupan Mountain area in Ningxia. 展开更多
关键词 Hybrid yellow cattle group Growth hormone receptor gene POLYMORPHISM
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Studies on Genetic Polymorphism of Different Biotypeswith RAPD Analysis1
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作者 吴玉萍 贾方钧 吴清江 《Developmental and Reproductive Biology》 1999年第2期25-31,共7页
In the present paper, RAPD was used to study the genetic polymorphism of fisheswith different genome combinations. Our results indicated that four of the 26 random primersproduced distinct and reproducible electrophor... In the present paper, RAPD was used to study the genetic polymorphism of fisheswith different genome combinations. Our results indicated that four of the 26 random primersproduced distinct and reproducible electrophoretic patterns which were genome-specific andcould distinguish different biotypes. This enabled us to derive a diagnostic profile, from whichwe constructed a molecular marker key for different biotypes. By the analysis of the data ofRAPD patterns, the genetic relationship was constructed with UPGMA (unweighted pair-groupmethod with arithmetical averages). Our experiments also concluded that RAPD was moresuccessful in variety identification than protein polymorphism analysis and serohematology for itstechnological simplicity and sensitivity. 展开更多
关键词 genome addition RAPD genetic polymorphism
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Genetic determination of irritable bowel syndrome 被引量:4
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作者 Cristina Hotoleanu Radu Popp +2 位作者 Adrian Pavel Trifa Laurentiu Nedelcu Dan L Dumitrascu 《World Journal of Gastroenterology》 SCIE CAS CSCD 2008年第43期6636-6640,共5页
Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. According to the Rome m criteria, IBS is defined as recurrent abdominal pain or discomfort for at least 3 d per month during the previ... Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. According to the Rome m criteria, IBS is defined as recurrent abdominal pain or discomfort for at least 3 d per month during the previous 3 mo associated with two or more of the following symptoms: improvement with defecation, onset associated with a change in the frequency of stool and/or onset associated with a change in form or appearance of stool. There is growing evidence regarding the genetic contribution in IBS, however the precise etiology of IBS is still unknown. The evaluation of the genetic influence is based on twin studies, familial aggregation and genetic epidemiological investigations. Most studies showed a concordance for IBS significantly greater in monozygotic than in dizygotic twins. The majority of the studies have shown that familial aggregation may represent exposures to a similar environment, as well as the influence of genetic factors. Whereas no specific gene has been identified in association with IBS, recent studies have noticed the importance of polymorphisms in the promoter region of the serotonin reuptake transporter gene, G-protein beta 3 subunit gene (C825T), cholecystokinin receptor (CCKAR gene 779T〉C), and high-producer tumor necrosis factor genotype. Further studies are necessary to determine how genetic factors influence the clinical manifestations and therapeutical response in IBS patients. 展开更多
关键词 Irritable bowel syndrome Genetic factors Gene polymorphisms Twin studies Familial aggregation
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Vitamin D receptor gene polymorphisms and colorectal cancer risk:A systematic meta-analysis 被引量:7
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作者 Yong-Heng Bai Hong Lu, Dan Hong +2 位作者 Cheng-Cheng Lin Zhen Yu Bi-Cheng Chen 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第14期1672-1679,共8页
AIM:To investigate the relationship between polymorphisms present in the vitamin D receptor(VDR) gene and colorectal cancer risk,a systematic meta-analysis of population-based studies was performed.METHODS:A total of ... AIM:To investigate the relationship between polymorphisms present in the vitamin D receptor(VDR) gene and colorectal cancer risk,a systematic meta-analysis of population-based studies was performed.METHODS:A total of 38 relevant reports published between January 1990 and August 2010 were identified,of which only 23 qualified for this meta-analysis based on our selection criteria.Five polymorphic variants of the VDR gene,including Cdx-2(intron 1e) and FokI(exon 2) present in the 5' region of the gene,and BsmI(intron 8),ApaI(intron 8),and TaqI(exon 9) sites present in the 3' untranslated region(UTR),were evaluated for possible associations with colorectalcancer risk.Review manager 4.2 was used to perform statistical analyses.RESULTS:In the meta-analysis performed,only the BsmI polymorphism was found to be associated with colorectal cancer risk.In particular,the BsmI B genotype was found to be related to an overall decrease in the risk for colorectal cancer [BB vs bb:odds ratio(OR) = 0.87,95% CI:0.80-0.94,P = 3 × 10-4;BB vs Bb + bb:OR = 0.90,95% CI:0.84-0.97,P = 5 × 10-4].Moreover,in subgroup analyses,the BsmI B genotype was significantly associated with colon cancer,and not rectal cancer.An absence of between-study heterogeneity was also observed.CONCLUSION:A meta-analysis of 23 published studies identified the BsmI polymorphism of the VDR gene to be associated with an increased risk of colon cancer. 展开更多
关键词 Vitamin D receptor POLYMORPHISM Metaanalysis Colorectal cancer
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-765G > C COX-2 polymorphism may be a susceptibility marker for gastric adenocarcinoma in patients with atrophy or intestinal metaplasia 被引量:16
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作者 Carina Pereira Hugo Sousa +5 位作者 Paula Ferreira Maria Fragoso Luís Moreira-Dias Carlos Lopes Rui Medeiros Mário Dinis-Ribeiro 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第34期5473-5478,共6页
AIM: To investigate the relationship between the -765G 〉 C COX-2 polymorphism and the development of different gastric lesions: atrophy or intestinal metaplasia and gastric adenocarcinoma. METHODS: A cross-section... AIM: To investigate the relationship between the -765G 〉 C COX-2 polymorphism and the development of different gastric lesions: atrophy or intestinal metaplasia and gastric adenocarcinoma. METHODS: A cross-sectional study was performed involving 320 Portuguese individuals (210 without evidence of neoplastic disease, 73 patients with gastric adenocarcinomas and 37 with atrophy or intestinal metaplasia) using a PCR-RFLP method.RESULTS: -765C allele was overrepresented in the patients with gastric adenocarcinoma (51%) when compared either with the control group (38%) or patients with atrophy or intestinal metaplasia (27%). Callele was found to be very common in our population (0.22), and a multivariate logistic regression analysis revealed nearly 3-fold increased risk for the progression to gastric adenocarcinoma in patients with atrophy or intestinal metaplasia carrying the -765C allele (OR = 2.67, 95% CI = 1.03-6.93; P = 0.04).CONCLUSION: -765C carrier status should be considered as another susceptibility marker for gastric adenocarcinoma development in patients with atrophy or intestinal metaplasia. 展开更多
关键词 Gastric adenocarcinoma ATROPHY Intestinal metaplasia COX-2 POLYMORPHISM PCR-RFLP PHARMACOGENOMIC
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EFFECTS OF VITAMIN D RECEPTOR GENE POLYMORPHISMS ON SUSCEPTIBILITY TO TYPE 1 DIABETES MELLITUS 被引量:8
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作者 Xin-hua Xiao Zhe-long Liu +4 位作者 Heng Wang Qi Sun Wen-hui Li Guo-hua Yang Qiu-ying Liu 《Chinese Medical Sciences Journal》 CAS CSCD 2006年第2期95-98,共4页
Objective To investigate the influence of vitamin D receptor (VDR) gene polymorphisms on susceptibility to type 1 diabetes mellitus (T1DM) in the Chinese Han population. Method One hundred and thirty-six Chinese ... Objective To investigate the influence of vitamin D receptor (VDR) gene polymorphisms on susceptibility to type 1 diabetes mellitus (T1DM) in the Chinese Han population. Method One hundred and thirty-six Chinese Han people, including 54 T1DM patients and 82 unrelated healthy subjects as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism for three restriction sites in the VDR gene, which were ApaI, TaqI, and BamL Results The frequency of B allele of BsmI site in VDR gene was significantly higher in T1DM patients than in healthy subjects ( P = 0. 033 ) while no difference was found between the two groups in the distribution of ApaI and TaqI polymorphisms. Conclusion The BsmI polymorphism of VDR gene may be associated with the susceptibihty to T1DM in the Chinese Han population of Beijing. 展开更多
关键词 type 1 diabetes mellitus vitamin D receptor gene polymorphism
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Association between gene polymorphisms of vitamin D receptor and pulmonary tuberculosis susceptibility:a meta-analysis 被引量:2
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作者 Su Qian Ma Xiangyu +5 位作者 Lin Hui Li Ying Hu Daiyu Xiong Hongyan Xu Rufu Li Yafei 《Journal of Medical Colleges of PLA(China)》 CAS 2011年第2期63-75,共13页
The vitamin D receptor (VDR) gene is a primary candidate gene for tuberculosis susceptibility, but results of previous studies are somewhat contradictory and underpowered. Thus, it is essential to further explore th... The vitamin D receptor (VDR) gene is a primary candidate gene for tuberculosis susceptibility, but results of previous studies are somewhat contradictory and underpowered. Thus, it is essential to further explore the association between VDR gene polymorphisms and risk of pulmonary tuberculosis (PTB). Methods: A systematic review and meta-analysis about the association between Fok[, TaqI, Apal and Bsm[ polymorphisms and PTB susceptibility was conducted. Statistical Package for Social Science (Version 13.0) and Review Manager (Version 4.2, The Cochrane Collaboration) were used to analyze the data reported in studies. Results: A total of 13 studies with 2 262 cases and 2 833 controls were involved in the FokI polymorphism, and the results showed FokI polymorphism was associated with PTB susceptibility (allele f vs F: OR=1.12, 95% CI=[1.02, 1.23]; the additive effect model ff vs FF: OR=1.40, 95%CI=[1.10, 1.77]; the recessive genetic model firs Ff+FF: OR=1.39, 95%CI=[1.12, 1.71]). No significant associations were observed between TaqI (15 studies with 3 031 cases and 3 132 controls), ApaI (7 studies with 1 495 cases and 1 922 controls), BsmI (6 studies with 919 cases and 1 250 controls) variants and PTB susceptibility. Conclusion: We found variant Fokl polymorphism of VDR gene may play a risky role in PTB development, and the genetic model was presumed to be recessive. 展开更多
关键词 Vitamin D receptor Pulmonary tuberculosis POLYMORPHISM META-ANALYSIS
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Low Frequencies of CCR5-Δ32 and CCR5-m303,but High Frequencies of CCR2-641 and SDF1-3'A Alleles in Indigenous Ethnic Groups in China's Mainland 被引量:5
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作者 王福生 金磊 +11 位作者 洪卫国 刘明旭 周越塑 张冰 施明 王吉明 雷周云 王哲 冯铁建 侯静 李光汉 曹韵贞 《Chinese Journal of Sexually Transmitted Infections》 2002年第1期7-12,共6页
Objective: The aim in this study was to identify the allelicfrequencies of the chemokine (SDF1-3'A) and chemokinereceptor (CCR5△32, CCR5m303 and CCR2-64I) genesresistant to HIV-1 infection and/or disease progress... Objective: The aim in this study was to identify the allelicfrequencies of the chemokine (SDF1-3'A) and chemokinereceptor (CCR5△32, CCR5m303 and CCR2-64I) genesresistant to HIV-1 infection and/or disease progression inindigenous Chinese populations. Methods: By using QIAamp DNA Blood Mini Kit, thegenomic DNA samples were purified from whole peripheralblood of healthy individuals (n=2067) from Han, Uygur,Mongolian and Tibetan ethnic groups, as well as Han patientsincluding HIV-1 carriers (n=330), patients with other sexuallytransmitted diseases (STDs, n=259) and intravenous drugusers (IVDUs, n=125). The allelic polymorphisms wereidentified by means of PCR or PCR-RFLP analyses. Thesequences of randomly selected amplified PCR products werefurther confirmed by direct DNA sequencing. Results: The mutant frequencies were identified to be0%~3.48% for CCR5△32, 0% for CCR5m303,19.15%~28.79% for CCR2-64 and 19.10%~28.73% for SDF1-3'A alleles, respectively, in Chinese healthy individuals fromfour ethnic groups. Our findings indicated the allelicfrequencies vary among the different ethnic groups.Furthermore, the HIV-1 carriers, STD cases and IVDUs (all ofHan ethnicity) were found to have the allelic frequencies of0%~0.19% (CCR5△32), 0% (CCR5m303), 19.31%~20.45%(CCR2-64) and 25.61%~26.83% (SDF1-3'A) with minorvariations in their frequencies between the patients andhealthy Han groups. There was no CCR5-m303 mutationfound in any subject in this study. Conclusion: The examined subjects of four Chinese ethnicorigins showed lower frequencies of CCR5△32 andCCR5m303 alleles, but higher frequencies of mutant CCR2-64I and SDF1-3'A alleles compared to those identified innorthern-European and American Caucasians. Thesignificance of the different frequencies and polymorphisms ofthe above alleles in Chinese populations needs to be furtherexamined in HIV-1/AIDS diseases. 展开更多
关键词 HIV-1 coreceptors POLYMORPHISM Allelic frequency mutation
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Transforming growth factor-β1 gene polymorphisms are associated with progression of liver fibrosis in Caucasians with chronic hepatitis C infection 被引量:14
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作者 HaoWang SenaitMengsteab +5 位作者 CarmenG.Tag Chun-FangGao ClausHellerbrand FrankLammert AxelM.Gressner RalfWeiskirchen 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第13期1929-1936,共8页
AIM: Considerable attention is focused on polymorphisms in the gene encoding transforming growth factor-pi (TGF-β1), a multifunctional cytokine that is in turn a potent growth inhibitor involved in wound healing and ... AIM: Considerable attention is focused on polymorphisms in the gene encoding transforming growth factor-pi (TGF-β1), a multifunctional cytokine that is in turn a potent growth inhibitor involved in wound healing and differentiation. In humans, it promotes the pathogenesis of organ fibrosis, atherosclerosis, cancer, autoimmune and inflammatory diseases, keloid disease, and hypertrophic scarring. For this reason, much emphasis has been placed on studies elucidating the impact of TGF-β1 and its gene variations for the susceptibility and pathogenesis of these diseases. Unfortunately, some studies have serious limitations. METHODS: We have recently described a high-throughput method for investigation the Arg25Pro polymorphism of human TGF-β1 gene and showed that the frequency of the Pro25 allele is significantly associated with hepatic fibrogenesis. In this report, we describe two novel LightCyder (LC) techniques that facilitate the examination of the two other known alterations in the coding region of TGF-β1. We investigated whether these polymorphisms contribute to hepatitis-induced progression of fibrogenesis in Chinese and Caucasians. RESULTS: In the Chinese ancestry, the gene polymorphisms at codons 25 and 263 were not found and the genetic variant at codon 10 is unlikely to confer susceptibility to hepatic fibrosis. Contrarily, in Caucasians TGF-β1 allelic variations are more frequent and the presence of prolines either in codon 25 or 10 is associated with the interindividual variability in developing more severe fibrosis during chronic hepatitis C infection. CONCLUSION: In summary, these results confirm the hypothesis that TGF-β1 polymorphisms are associated with fibrosis progression in Caucasians chronically infected with hepatitis C. 展开更多
关键词 TGF-β1 Gene polymorphism LIGHTCYCLER Viral hepatitis Fibrosis
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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 large yellow croaker (Larimichthys crocea) growth hormone gene (GH) PCR-single strandconformation polymorphism (PCR-SSCP) single nucleotide polymorphism (SNP) growth trait
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EST-derived SNP discovery and selective pressure analysis in Pacific white shrimp(Litopenaeus vannamei) 被引量:3
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作者 柳承璋 王霞 +1 位作者 相建海 李富花 《Chinese Journal of Oceanology and Limnology》 SCIE CAS CSCD 2012年第5期713-723,共11页
Pacific white shrimp has become a major aquaculture and fishery species worldwide.Although a large scale EST resource has been publicly available since 2008,the data have not yet been widely used for SNP discovery or ... Pacific white shrimp has become a major aquaculture and fishery species worldwide.Although a large scale EST resource has been publicly available since 2008,the data have not yet been widely used for SNP discovery or transcriptome-wide assessment of selective pressure.In this study,a set of 155 411 expressed sequence tags(ESTs) from the NCBI database were computationally analyzed and 17 225 single nucleotide polymorphisms(SNPs) were predicted,including 9 546 transitions,5 124 transversions and 2 481 indels.Among the 7 298 SNP substitutions located in functionally annotated contigs,58.4%(4 262) are non-synonymous SNPs capable of introducing amino acid mutations.Two hundred and fifty nonsynonymous SNPs in genes associated with economic traits have been identified as candidates for markers in selective breeding.Diversity estimates among the synonymous nucleotides were on average 3.49 times greater than those in non-synonymous,suggesting negative selection.Distribution of non-synonymous to synonymous substitutions(Ka/Ks) ratio ranges from 0 to 4.01,(average 0.42,median 0.26),suggesting that the majority of the affected genes are under purifying selection.Enrichment analysis identified multiple gene ontology categories under positive or negative selection.Categories involved in innate immune response and male gamete generation are rich in positively selected genes,which is similar to reports in Drosophila and primates.This work is the first transcriptome-wide assessment of selective pressure in a Penaeid shrimp species.The functionally annotated SNPs provide a valuable resource of potential molecular markers for selective breeding. 展开更多
关键词 Litopenaeus vannamei single nucleotide polymorphism (SNP) expressed sequence tag (EST) shrimp population genetics adaptive evolution Darwinian selection
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Study on pig growth hormone gene polymorphisms in western meat-type breeds and Chinese local breeds 被引量:5
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作者 宋成义 高波 +2 位作者 经荣斌 陶勇 毛九德 《Journal of Zhejiang University Science》 EI CSCD 2003年第6期734-739,共6页
Chinese Meishan and Jiangquhai pigs are two of the most prolific pigs in the world, but their growth rate is lower than that of Duroc, Landrace and Pietrain pigs. It is suggested that growth rate is regulated by growt... Chinese Meishan and Jiangquhai pigs are two of the most prolific pigs in the world, but their growth rate is lower than that of Duroc, Landrace and Pietrain pigs. It is suggested that growth rate is regulated by growth hormone. The objective of the current study was to analyze the porcine growth hormone (p GH ) gene polymorphisms based on the polymerase chain reaction restriction fragment length polymorphism method (PCR RFLP) for three western meat type breeds (Duroc, Landrace and Pietrain) and two local Chinese pigs (Meishan and Jiangquhai). Five polymorphic restriction sites were detected with the Apa I, Msp I, Bsp I and Hha I restriction enzymes in two amplified fragments (605 bp, -119 to +486; 506 bp, +206 to +711). Breed difference was found only in the 506 bp fragment. There was no difference in allelic frequencies of Bsp I and Hha I restriction sites among the five breeds ( P >0.05). Landrace and Meishan pigs lacked allele G 3 of Msp I site. The allele G 3 frequency of restriction Msp I site of the 506 bp fragment in Pietrain pigs was higher than that in Duroc and Jianquhai pigs ( P <0.001). For Apa I site, the Meishan pigs lacked allele G1 ; no difference was found in allelic frequencies among Pietrain, Duroc, Landrace and Jiangquhai pigs ( P > 0.05 ). This new and rapid PCR RFLP typing method is an attractive tool for analysis of porcine growth hormone gene restriction sites. The differences in Msp I and Apa I restriction sites may explain the growth difference between the foreign meat type breeds above mentioned and local Chinese pigs. 展开更多
关键词 PIGS Growth hormone gene POLYMORPHISMS
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Study on the sex-related AFLP marker of the Yangtze finless porpoise 被引量:3
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作者 Xia Junhong(夏军红) Zheng Jingsong Wang Ding 《High Technology Letters》 EI CAS 2005年第3期325-328,共4页
The sex-related molecular marker of the Yangtze finless porpoise was screened using Amplified Fragment Length Polymorphism (AFLP) technique combined with the bulked segregant analysis. Totally 36 AFLP primer combinati... The sex-related molecular marker of the Yangtze finless porpoise was screened using Amplified Fragment Length Polymorphism (AFLP) technique combined with the bulked segregant analysis. Totally 36 AFLP primer combinations were used to detect the genome DNA bulks of the female and male porpoises, and one sex-related AFLP marker was finally obtained. The marker can be applied to sex identification, and provides a base for further cloning of sex-related genes and analyzing of Y chromosome haplotypes of the Yangtze finless porpoise. 展开更多
关键词 the Yangtze finless porpoise AFLP sex identification
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hOGG1 Ser326Cys polymorphism modifies the significance of the environmental risk factor for colon cancer 被引量:19
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作者 Jae-Il Kim Young-Jin Park +5 位作者 Ki-Hong Kim Ji-Il Kim Byung-Joo Song Meung-Soo Lee Chul-Num Kim Seok-Hyo Chang 《World Journal of Gastroenterology》 SCIE CAS CSCD 2003年第5期956-960,共5页
AIM:To determine the association of hOGG1 (8-oxoguanine glycosylase I,OGG1) polymorphism of Ser326Cys substitution with colon cancer risk and possible interaction with known environmental risk factors. METHODS:A case-... AIM:To determine the association of hOGG1 (8-oxoguanine glycosylase I,OGG1) polymorphism of Ser326Cys substitution with colon cancer risk and possible interaction with known environmental risk factors. METHODS:A case-control study with 125 colon cancer cases and 247 controls was conducted, RESULTS:There was no major difference in Ser326Cys genotype distribution between cases and controls.The meat intake tended to increase the odds ratio for colon cancer with an OR of 1.72 (95 % confidence interval;CI=1.12-2.76). Such tendency was more prominent in Cys/Cys carriers (OR=4.31,95 % CI=1.64-11.48),but meat intake was not a significant risk factor for colon cancer in Ser/Ser or Ser/ Cys carriers.The OR for colon cancer was elevated with marginal significance in smokers who were Cys/Cys carriers (OR=2.75,95 % CI=1.07-7.53) but not in Ser/Ser or Ser/ Cys carriers. CONCLUSION:These results suggest that the hOGG1 Ser326Cys polymorphism is probably not a major contributor to individual colon cancer susceptibility overall,but the Cys/ Cys genotype may alter the impact of some environmental factors on colon cancer development. 展开更多
关键词 Base Sequence Case-Control Studies Colonic Neoplasms DNA DNA-Formamidopyrimidine Glycosylase Diet Female Genotype Humans Male MEAT Middle Aged N-Glycosyl Hydrolases Odds Ratio Polymorphism Genetic Risk Factors SMOKING
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Bioinformotics Analysis for Coding SNPs of the HLA-DQA1 Gene Involved in Susceptibility to Cervical Cancer 被引量:1
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作者 Yanyun Li Jun Xing Linsheng Zhao Yanni Li Yuchuan Wang Weiming Zhang 《Chinese Journal of Clinical Oncology》 CSCD 2006年第1期49-54,共6页
OBJECTIVE To analyze coding SNPs of the HLA-DQA1 gene involved in susceptibility for cervical cancer by a bioinformatics approach, and to choose some SNPs that may have an association with cervical cancer. METHODS By ... OBJECTIVE To analyze coding SNPs of the HLA-DQA1 gene involved in susceptibility for cervical cancer by a bioinformatics approach, and to choose some SNPs that may have an association with cervical cancer. METHODS By a SNPper tool we extracted SNPs from a public database (dbSNP), exporting them in FASTA formats suitable for subsequent use. Then we used PARSESNP as a tool for the analysis of the cSNPs. RESULTS In the cSNPs of the HLA-DQA1 gene, we find that rs9272693 and rs9272703, are made up of missense mutations which convert a codon for one amino acid into a codon for a different amino acid. We chose a PSSM Difference >10 as a lower level for the scores of changes predicted to be deldterious. CONCLUSION We used a bioinformatics approach for cSNPs analysis of the HLA-DQA1 gene. This method can select the variants in a conserved region, and give a PSSM Difference score. But the results need to be verified in cervical cancer patients and a control population. 展开更多
关键词 BIOINFORMATICS single nucleotide polymorphisms cervical cancer HLA.
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Immunohistochemical evaluation of vitamin D receptor(VDR) expression in cutaneous melanoma tissues and four VDR gene polymorphisms 被引量:5
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作者 Francesco La Marra Giuseppe Stinco +4 位作者 Cinzia Buligan Giovanni Chiriacò Diego Serraino Carla Di Loreto Sabina Cauci 《Cancer Biology & Medicine》 SCIE CAS CSCD 2017年第2期162-175,共14页
Objective:Vitamin D receptor(VDR)mediates vitamin D activity.We examined whether VDR expression in excised melanoma tissues is associated with VDR gene(VDR)polymorphisms.Methods:We evaluated VDR protein expression(by ... Objective:Vitamin D receptor(VDR)mediates vitamin D activity.We examined whether VDR expression in excised melanoma tissues is associated with VDR gene(VDR)polymorphisms.Methods:We evaluated VDR protein expression(by monoclonal antibody immunostaining),melanoma characteristics,and carriage of VDR-Fok I-rs2228570(C>T),VDR-Bsm I-rs1544410(G>A),VDR-ApaI-rs7975232(T>G),and VDR-TaqI-rs731236(T>C)polymorphisms(by restriction fragment length polymorphism).Absence or presence of restriction site was denoted by a capital or lower letter,respectively:"F"and"f"for Fok I,"B"and"b"for Bsm I,"A"and"a"for ApaI,and "T"and"t"for TaqI endonuclease.Seventy-four Italian cutaneous primary melanomas(52.1±12.7 years old)were studied;51.4% were stage Ⅰ,21.6% stage Ⅱ ,13.5% stage Ⅲ,and 13.5% stage Ⅳ melanomas.VDR expression was categorized as follows:100% positive vs.<100%;over the median 20%(high VDR expression)vs.≤20%(low VDR expression);absence vs.presence of VDR-expressing cells.Results:Stage I melanomas,Breslow thickness of<1.00 mm,level II Clark invasion,Aa heterozygous genotype,and AaTT combined genotype were more frequent in melanomas with high vs.low VDR expression.Combined genotypes BbAA,bbAa,AATt,BbAATt,and bbAaTT were more frequent in 100%vs.<100%VDR-expressing cells.Combined genotype AATT was more frequent in melanomas lacking VDR expression(odds ratio=14.5;P=0.025).VDR expression was not associated with metastasis,ulceration,mitosis>1,regression,tumor-infiltrating lymphocytes,tumoral infiltration of vascular tissues,additional skin and non-skin cancers,and melanoma familiarity.Conclusions:We highlighted that VDR polymorphisms can affect VDR expression in excised melanoma cells.Low VDR expression in AATT carriers is a new finding that merits further study.VDR expression possibly poses implications for vitamin D supplementation against melanoma.VDR expression and VDR genotype may become precise medicinal tools for melanoma in the future. 展开更多
关键词 Vitamin D receptor VDR protein expression VDR polymorphism cutaneous melanoma metastatic melanoma skin cancer predictive biomarkers FokI polymorphism
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Polymorphisms in the Myostatin-1 gene and their association with growth traits in Ancherythroculter nigrocauda
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作者 孙艳红 李清 +4 位作者 王贵英 祝东梅 陈见 李佩 童金苟 《Chinese Journal of Oceanology and Limnology》 SCIE CAS CSCD 2017年第3期597-602,共6页
Myostatin (MSTN) is a member of the transforming growth factor-β gene superfamily that negatively regulates skeletal muscle development and growth. In the present study, partial genomic fragments of Myostatin-1 (M... Myostatin (MSTN) is a member of the transforming growth factor-β gene superfamily that negatively regulates skeletal muscle development and growth. In the present study, partial genomic fragments of Myostatin-1 (MSTN-1) in two commercial hatchery populations of Ancherythroculter nigrocauda, an economically important freshwater fish, were screened for single nucleotide polymorphisms (SNPs) and then genotyped by direct sequencing of PCR products. Five SNPs were identified in intron 1 and exon 2, including a non-synonymous mutation causing an amino acid change (Val to Ile) at position 180. Association analyses based on 300 individuals revealed that the g. 1129T〉C SNP locus was significantly associated with total length (TL), body length (BL), body height (BH) and body weight (BW) in 6- and 18-month-old populations, while the g. 1289G〉A locus was significantly associated with BH and BW in the 6-month-old population. Haplotype analyses revealed that fish with the genotype combinations TC/TC or TC/GA showed better growth performance. Our results suggest that g.l129T〉C and g.1289G〉A have positive effects on growth traits and may be candidate gene markers for marker-assisted selection in A. nigrocauda. 展开更多
关键词 Myostatin-1 (MSTN-1) single nucleotide polymorphisms (SNPs) Ancherythroculter nigrocauda growth traits association analysis
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Vascular endothelial growth factor polymorphisms and risk of lung cancer
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作者 Jing Liang Xinshuang Yu Xiaolin Liu Dianshui Sun Hairong Liu Wei Hu Aizhong Qu Yan Li 《The Chinese-German Journal of Clinical Oncology》 CAS 2009年第5期269-272,共4页
Objective:We investigated the potential association between vascular endothelial growth factor(VEGF) polymorphisms and the risk of lung cancer.Methods:In the case-control study, we used PCR-RFLP technique to determine... Objective:We investigated the potential association between vascular endothelial growth factor(VEGF) polymorphisms and the risk of lung cancer.Methods:In the case-control study, we used PCR-RFLP technique to determine two VEGF genotypes-2578C/A and 936C/T in 171 lung cancer patients and 172 healthy controls for conformation, and constructed haplotypes of the two gene sites by PHASE1.0 software.Unconditional logistic regression model was used to analyze the statistical association of genontypes or haplotypes in the two groups adjusted by gender and age.Results:Compared with at least one-2578A allele, individuals with-2578CC genotype found associated with a significantly decreased risk of lung cancer P=0.001;adjusted odds ratio(OR), 0.391;95% confidence interval(95% CI), 0.226-0.686.Analyses stratified by gender showed that the combined-2578 CA and AA genotype were also associated with a significantly decreased risk of lung cancer.(P = 0.016;OR = 0.303;95% CI = 0.153-0.601 and P = 0.018;OR = 0.547;95% CI = 0.331-0.903, respectively).The distribution of the two haplotypes(936C/-2578C and 936C/-2578A) were significantly different between case-and-control groups(P = 0.016, OR = 0.317, 95% CI = 0.124-0.809 and P = 0.018, OR = 0.547, 95% CI = 0.331-0.903).Analyses categorized by tumor histology showed that Haplotype C-C was associated with a significantly decreased risk of adenocarcinoma compared with the reference haplotypes.(P = 0.004;OR = 0.237;95% CI = 0.090-0.627).Conclusion:These results suggest that the VEGF polymorphisms may be a critical factor for the risk of lung cancer. 展开更多
关键词 lung neoplasms vascular endothelial growth factor risk factor genetic polymorphism
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