【摘要】 用聚合酶链反应(PCR)和聚丙烯酰胶凝胶电泳(PAGE)的方法,研究了71名中国汉族人142条染色体的vWF基因40号内含子的可变数目串联重复序列(VNTR)。中国人群vWF基因内存在ATCT的串联重复序列,其VNTR存在14,13,12,11,10,9,8和7等八种等位基因,总的理论杂合率为79.4％。该VNTR携带遗传信息量大,作为血管性血友病的遗传指标之一对vWD的遗传咨询和产前诊断具有应用价值。更多还原

【Abstract】 To explore the variable number tandem repeats (VNTR) of nucleotide sequence ATCT within intron 40 of von Willebrand factor gene in Han Chinese, polymerase chain reaction (PCR) and polyacrylamide gel elec-trophoresis (PAGE) were used to examine the VNTR in 71 individuals. Eight different length allelic bands were observed, which contain ATCT repeats ranging from 7 to 14. The frequencies of the alleles are different in Chinese, compared with white European. Total theoretical heterozygous frequency is 79. 4%. Detection of number of the VNTR is valuable for the carrier detection and prenatal diagnosis in von Willebrand disease fami-ly.更多还原