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Interleukin-10 promoter polymorphisms in patients with hepatitis B virus infection or hepatocellular carcinoma in Chinese Han ethnic population 被引量:9
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作者 Juan Wang, Hong Ni, Li Chen and Wen-Qin Song College of Life Sciences, Nankai Umversity, Tianjin 300071. China and College of Life Sciences, Shenzhen University, Shenzhen 518060, China 《Hepatobiliary & Pancreatic Diseases International》 SCIE CAS 2006年第1期60-64,共5页
BACKGROUND: Since single nucleotide polymorphisms (SNPs) can serve as gene markers, polymorphism profiles may help scientists to identify the full collection of genes that contribute to the development of complex dise... BACKGROUND: Since single nucleotide polymorphisms (SNPs) can serve as gene markers, polymorphism profiles may help scientists to identify the full collection of genes that contribute to the development of complex diseases such as cancer. The distribution of interleukin-10 (IL-10) promoter polymorphisms in Chinese Han ethnic patients with hepatitis B virus (HBV) infection and hepatocellular carcinoma (HCC) was investigated in this study. METHODS: The polymorphisms of IL-10 promoter region were detected by pulymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and sequencing. Sixty-six health controls, 42 patients with HBV infection, 30 HCC patients, and cell line SMMC-7721 were examined this way. RESULTS: Polyrnorphisms of T/C or T/N on-872 site occurred frequently in Han ethnic population. Pulyrnorphisms were detected in HBV and HCC patients and cell line SMMC-7721. The hotspot among the pulymorphisms was inserting base A between-1058 and-1057. CONCLUSION: Polymorphisms of IL-10 promoter in HBV and HCC patients may be associated with HBV infection and HCC development. 展开更多
关键词 INTERLEUKIN-10 polymorphisms on promoter region polymerase chain reaction-single strand conformation polymorphism hepatitis B virus carcinoma hepatocellular
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陇东绒山羊KRTAP2-1基因鉴定及其对羊绒性状影响的研究 被引量:2
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作者 孙凯 赵孟丽 +5 位作者 郝志云 王建清 沈继源 宋宜泽 柯娜 王继卿 《核农学报》 CAS CSCD 北大核心 2021年第5期1091-1098,共8页
角蛋白关联蛋白(KAPs)是羊绒纤维的主要结构成分,但尚未在山羊基因组中鉴定出KRTAP2-1基因,本研究以人类KRTAP2-1基因为模板,在山羊基因组中进行同源性搜索,在19号染色体上发现了一个399 bp的开放阅读框。采用聚合酶链反应-单链构象多态... 角蛋白关联蛋白(KAPs)是羊绒纤维的主要结构成分,但尚未在山羊基因组中鉴定出KRTAP2-1基因,本研究以人类KRTAP2-1基因为模板,在山羊基因组中进行同源性搜索,在19号染色体上发现了一个399 bp的开放阅读框。采用聚合酶链反应-单链构象多态性(PCR-SSCP)方法,在249只陇东山羊上检测到7条不同的序列(A-G)。进化树结果表明,这7条序列与人类和绵羊的KAP2-1序列有较高的同源性,表明该序列是山羊KRTAP2-1的7个等位基因。测序结果表明,KRTAP2-1基因中存在12个单核苷酸多态性(SNPs)(5个SNPs位于编码区,7个SNPs位于非编码区),以及c.-61-63delCTC和c.9395delCCG两个碱基缺失,其中c.9395delCCG引起了第32位精氨酸的移码缺失。山羊KAP2-1蛋白含有丰富的半胱氨酸、脯氨酸、苏氨酸和丝氨酸。相关性分析表明,等位基因C的存在与较小的羊绒纤维直径相关(存在:13.4±0.05μm;缺失:13.6±0.03μm;P=0.010)。本研究表明,山羊KRTAP2-1基因有丰富的多态性,可作为陇东绒山羊羊绒纤维直径选育的分子标记用于生产实践。 展开更多
关键词 KRTAP2-1基因 山羊 聚合酶链反应-单链构象多态性(pcr-sscp) 羊绒纤维直径
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Single nucleotide polymorphisms in the CDH17 gene of colorectal carcinoma 被引量:2
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作者 Ren-Yin Chen Juan-Juan Cao +4 位作者 Juan Chen Jian-Ping Yang Xiao-Bo Liu Guo-Qiang Zhao Yu-Feng Zhang 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第48期7251-7261,共11页
AIM:To investigate the relationship between c.343A>G and c.2216A>C polymorphism sites in the CDH17 gene and colorectal carcinoma.METHODS:Ninety-three non-consanguineous colorectal carcinoma patients admitted to ... AIM:To investigate the relationship between c.343A>G and c.2216A>C polymorphism sites in the CDH17 gene and colorectal carcinoma.METHODS:Ninety-three non-consanguineous colorectal carcinoma patients admitted to the Department of Oncology at the First Affiliated Hospital of Zhengzhou University were included in this study.Ninety-three peripheral venous blood samples,of approximately one milliliter from each patient,were collected betweenDecember 2009 and August 2010.The genomic DNA of these peripheral venous blood samples were extracted and purified using a Fermentas Genomic DNA Purification Kit(Fermentas,CA) according to the manufacturer' s protocol.The single nucleotide polymorphisms(SNPs) of the liver-intestine cadherin(CDH17) gene c.343A>G and c.2216A>C were determined by the polymerase chain reaction-single strand conformation polymorphism method(PCR-SSCP) in 93 peripheral venous blood samples from patients suffering with colorectal carcinoma.Typical samples that showed different migration bands in SSCP were confirmed by sequencing.Directed DNA sequencing was used to check the correctness of the genotype results from the PCR-SSCP method.RESULTS:There was a significant association between the c.2216 A>C SNPs of the CDH17 gene and the tumor-node-metastasis(TNM) grade,as well as with lymph node status,in 93 peripheral venous blood samples from colorectal carcinoma patients.The genotype frequencies of A/C,A/A,and C/C were 12.90%,33.33% and 53.76%,respectively.There was a significant correlation between lymph node metastasis,TNM grade,and the genotype distribution(P < 0.05).The C/C genotype raised the risk of lymph node metastasis and the TNM grade.There was a significant difference in the TNM grade and lymph node metastasis between the A/A and C/C genotypes(P = 0.003 and P = 0.013,respectively).Patients with colorectal carcinoma carrying the C allele tended to have a higher risk of lymph node metastasis and have a higher TNM grade.The difference between the TNM grades,as well as the lymph node metastasis of the two alleles,was statistically significant(P < 0.01).CONCLUSION:The SNPs of the CDH17 gene c.2216 A>C might be clinically important in the prognosis of colorectal carcinoma. 展开更多
关键词 Single nucleotide polymorphisms Liver-intestine cadherin Colorectal carcinoma polymerase chain reaction-single strand conformation polymorphism method
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Identification of CFTR Gene Mutations in Chinese Patients with Congenital Obstructive Azoospermia
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作者 曾国华 吴开俊 +1 位作者 梅骅 庄广伦 《Journal of Reproduction and Contraception》 CAS 2001年第3期131-139,共9页
ve To analyze the frequency and hot spot of CFTR gene mutations in Chinese patients with congenital obstructive azoospermia
关键词 cystic fibrosis transmembrane conductance regulator (CFTR) gene MUTATION polymerase chain reaction-single strand conformation polymorphism ( SSCP ) DNA sequencing congenital obstructive azoospermia
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