上海地区汉族人血栓调节蛋白基因1418位多态性研究  

Study on the Polymorphism in Position 1418 of the Thrombomodulin Gene in 28 Norm al Subjects of Shanghai Han Population.

作　　者：钱高潮[1] 李稻[1] 程建新[1] 尹俊[1] 王鸿利[1] 

机构地区：[1]上海第二医科大学医学检验重点实验室,200023

出　　处：《诊断学理论与实践》2002年第4期248-250,共3页Journal of Diagnostics Concepts & Practice

摘　　要：目的:探讨上海地区汉族人群中血栓调节蛋白(TM)胞外编码区基因片段是否存在多态性。方法:以基因组DNA为模板,用PCR扩增目的片段,构建测序质粒,进行测序分析。结果:28名上海地区汉族正常人标本中,TM1418位基因型为T/C16名、T/T10名、C/C2名。结论:上海地区汉族人群中TM胞外编码区基因片段1418位存在C/T两态,且以基因型T/C(表型为TM455V/A)和T/T为主(白人和黑人以基因型C/C为主),等位基因T的频率(64.3%)明显高于白人(<35%)和黑人(<7%)。Objective:To inves tigate the polymorphisms of the thrombomodulin(TM)gene fragments containing the extracel-lular coding sequence in Shanghai Han population.Methods:The plasmid c ontaining the TM gene fragments obtained from PCR amplification of genomic DNA w as constructed and sequenced.Results:Among28normal subjects,T/C,T/T and C/C geno types were16,10,2respectively in position1418of this gene.Conclusions:A C/T dimo rphism is found in position1418of the TM gene in Shanghai Han population.The pre valence of the T/C genotype(phenotype:TM455V/A) and T/T the frequency of T allel e is64.3%in Shnanghai population,much higher than those of whites(<35%)and bl acks(<7%).

关 键 词：血栓调节蛋白 基因序列 多态性 汉族人群 冠心病 PCR 

分 类 号：Q347[生物学—遗传学] R541.4[医药卫生—心血管疾病]