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华东地区汉族人群HB-1基因多态性的研究
引用本文:孙玲玲,褚迅,黄薇.华东地区汉族人群HB-1基因多态性的研究[J].皖南医学院学报,2007,26(2):94-96.
作者姓名:孙玲玲  褚迅  黄薇
作者单位:1. 皖南医学院,生物化学教研室,安徽,芜湖,241001
2. 国家人类基因组南方研究中心,上海,201203
摘    要:目的:检测华东地区汉族人群HB-1基因的多态性,并与国外数据库进行比较。方法:采用直接测序法检测188例华东地区汉族正常个体全血标本中HB-1基因启动子、全部2个外显子及邻近的内含子区的多态性变化,所得结果与美国国立生物技术信息中心(NCBI)的SNP数据库(dbSNP)进行比较。结果:在188例正常样本中共发现6个SNPs,5个位于启动子,一个位于编码区,在dbSNP数据库中均已报道,但有6个数据库已报道的SNPs在本次研究中未能证实。结论:华东地区汉族人群HB-1基因多态性的分布与dbSNP数据库中的资料存在差异,为在华东地区汉族人群中研究HB-1基因相关疾病提供可靠数据。

关 键 词:HB-1基因  遗传多态性  汉族人群  次要组织相容性抗原
文章编号:1002-0217(2007)02-0094-03
修稿时间:2006-10-18

Study on polymorphisms in HB-1 gene in Chinese Hans from eastern and south-eastern China
SUN Ling-ling,ZHU Xun,HUANG Wei.Study on polymorphisms in HB-1 gene in Chinese Hans from eastern and south-eastern China[J].Acta Academiae Medicinae Wannan,2007,26(2):94-96.
Authors:SUN Ling-ling  ZHU Xun  HUANG Wei
Institution:Department of Biochemistry, Wannan Medical University, Wuhu 241001,China
Abstract:Objective:To investigate the genetic polymorphisms of HB-1 gene in Chinese Hans from eastern and south-eastern China for comparison with the date from abroad database.Methods:By direct sequencing,the promoter,together with all exons and introns of HB-1 gene nearby,was detected in 188 Chinese individuals from eastern and south-eastern China.The results were compared against the NCBI(National Center for Biotechnology Information U.S) databases.Results:6 SNPs were identified in this study,among which 5 SNPs were located in the promoter,1 SNP in coding regions.All the 6 SNPs had been reported in dbSNP and 6 already in the database were not identified in our subjects.Conclusion:Polymorphisms in HB-1 gene may vary between Chinese and dbSNP.The results obtained in the study can provide useful information for associated studies on HB-1 gene-related diseases.
Keywords:HB-1  genetic polymorphisms  Chinese Hans  minor histocompatibility antigen
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