广东人vWF基因40内含子VNTR检测及其在亲缘鉴定中的应用

用PCR直接扩增vWF基因40内含子串联重复片段VNTR区域,高分辨丙烯酰胺凝胶电泳,分离个体杂合子的两条DNA片段,从凝胶中回收DNA,第二次扩增,经A luⅠ消化,电泳直接检测VNTR基因型。54个无关个体等位基因全部为杂合子,共检出等位基因79个。频率为1/108的等位基因达36个;5个二代家系盲法检测得到确认;用于7个家系的亲缘鉴定排除了其中4个子女与其父母之间亲生关系。本实验结果证明,vWF基因40内含子NVTR基因在广东的汉族人群中仍然有高度的多态性。因此,我们认为该位点在广东人群中依然具有高遗传性多态标记,可应用于广东人群的亲缘关系的鉴定。

Detection of VNTR in intron40 of vWF gene in Guangdong Han population and its application in paternity identification

Objective:The VNTR in the intron40 of vWF gene was amplified by direct PCR and two amplified fragments from heterozygous persons were isolated by a high-resolution polyacrylamide gel electrophoresis.After elution from gel,the preliminary products were amplified again,and the amplified fragments were digested with Alu I,then the genotype could be directly determined through eletrophoresis.79 allelic genes were found from 54 unrelated individuals in Guangdong Han population,all of which were heterozygous.The allelic genes whose frequencies were 1/108 amounted to 36 ones.Two generations of 5 families were confirmed by a blind analyses.4 cases of paternity were excluded in 7 families.This result showed that the VNTR in the intron40 of vWF gene remained highly genetic polymorphism in Guangdong Han population and the locus might be useful as a genetic marker for paternity identification in Guangdong population.