中国汉族人群vWF基因G2805A多态性研究  

Study on the Polymorphism of the Site G2805A of vWF Gene in Chinese Han Population

作　　者：张敬宇[1] 王迎春[1] 万海英[1] 程大卫[1] 阮长耿[1] 

机构地区：[1]苏州医学院附属第一医院江苏省血液研究所血栓与止血研究室,苏州215006

出　　处：《中国实验血液学杂志》1999年第4期292-295,共4页Journal of Experimental Hematology

基　　金：国家自然科学基金 编号39670331

摘　　要：为研究中国汉族人群vWF基因G2805A多态性特点,应用PCR-DGGE技术结合Nla Ⅳ酶切分析,研究了60名中国汉族人120条染色体vWF基因G2805A的等位基因发生频率及杂合情况,并对28例DGGE电泳行为异常中的4例进行了DNA序列分析。结果发现,在中国汉族人群中存在vWF基因G2805A多态性,其等位基因发生频率分别为0.73(G)和0.23(A),理论杂合率为0.39,实际杂合率为0.40。这表明vWF基因G2805A多态性在中国汉族人群中具有较高的理论杂合率,可用于血管性血友病的遗传咨询和产前诊断。To study the characteristics of the G2805A polymorphism of von Willebrand factor (vWF) gene in Chinese Han population, the allele frequencies and heterozygosity of the site G2805A of vWF gene from 60 unrelated Chinese Han individuals were analyzed by polymerase chain reaction and denaturing gradient gel electrophoresis (PCR-DGGE) and digestion with the restriction endonuclease N1aⅣ . At the same time, the fragments of vWF gene exon 20 from 4 individuals of those which displayed the abnormal behaviors of DGGE were sequenced. It was found that the allele frequency of G: A for vWF gene G2805A is 0. 73:0.27 in Chinese Han population, the theoretical heterozygous rate is 0. 39 and the actual rate is 0. 4. It was demonstrated that the theoretical heterozygous rate of the G2805A polymorphism in vWF gene in Chinese Han population is relatively high, so it may be useful for genetic counseling and prenatal diagnosis in vWD families in China.

关 键 词：vonWillebrand因子基因 多态性 变性梯度凝胶电泳 限制性片段长度多态性 DNA测序 

分 类 号：Q343.12[生物学—遗传学]