论文部分内容阅读
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 investigate the polymorphism of vWF gene G2805A in Chinese Han population, the frequency and heterozygosity of allele of vWF gene G2805A from 120 Chinese Han population were studied by PCR-DGGE combined with Nla IV digestion DNA sequence analysis was performed on 4 of 28 DGGE abnormalities. The results showed that there was a G2805A polymorphism of vWF gene in Chinese Han population. The allele frequency was 0.73 (G) and 0.23 (A), respectively. The theoretical heterozygosity was 0.39 and the actual heterozygosity was 0.40. This indicates that the vWF gene G2805A polymorphism in Chinese Han population has a high theoretical heterozygosity rate, which can be used for genetic counseling and prenatal diagnosis of von Willebrand disease.