106例中国人vWA位点的研究

RESEARCH OF THE vWA LOCUS IN 106 CHINESES Wu Xianglin 1 Guo Jingyuan 1 Liang Shangyou 2 Wang Suibao 2 Liu Chao 2

应用聚合酶链反应（ＰＣＲ）、聚丙烯酰胺凝胶电泳和银染色技术，检测了人类血管性假血友病因子（ｖＷＦ）基因内含子４０中的ｖＷＡ位点等位基因及其无亲缘关系的随机个体频率。调查了１０６例中国人无关个体，发现该位点有８个等位基因，其大小为１３８－１６６ｂｐ，１８种基因型，符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律。１０个２代家系和１个４代家系调查结果表明ｖＷＡ位点的遗传符合孟德尔定律。此位点的杂合度为０．７８７，多态信息含量（ＰＩＣ）为０．７７２，具有高度遗传多态性。实验结果表明，该位点能较好地解决法医学上因生物检材量少和ＤＮＡ降解等难以进行鉴定的疑难问题，在法医学应用上具有重要价值。

The alleles and its frequencies of vWA locus which is in intron 40 of human von Willebrand Factor(vWF)gene were reseached with polymerase chain reation(PCR),polyacrylamide gels and silver staining,106 unrelated Chinese,10 of two generation and 1 of four generation families were examined.Eight alleles were observed with frequencies in the range 0.0047￣0.316,18 in 36 genotypes.The genotypes distribution meets Hardy Weinberg equilibrium.The polymorphism is high in which the heterozygosity is 0.787,the polymorphic information content(PIC) is 0.772.The results show that the DNA typing about minimal DNA and degraded samples can be solutioned with vWA locus which is useful in forensic medicine.