中国汉族群体vWF基因40内含子VNTR

Investigation on VNTR in Intron 40 of vWF Gene in Chinese Han Population

本文将Ａｍｐ－ＦＬＰ与ＲＦＬＰ结合起来，检测ｖＷＦ基因４０内含子ＶＮＴＲ（ｖａｒｉａｂｌｅｎｕｍｂｅｒｏｆｔａｎｄｅｍｒｅｐｅａｔｓ）。调查长沙地区１５６名无亲缘关系汉族人，发现ｖＷＦ基因４０内含子ＶＮＴＲ基因１３６个。基因型１５３个，全部为杂合子，分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律。此ＶＮＴＲ的杂合率为０．９８８４，ＰＩＣ为０．９８８３，是现已检出Ａｍｐ－ＦＬＰ中多态性最高的遗传标记。家系分析显示ＶＮＴＲ无遗传重组，依照常染色体共显性遗传。用高分辨聚丙烯酰胺凝胶电解质梯度电泳，分离扩增的杂合子个体ｖＷＦ基因４０内含子ＶＮＴＲ两条ＤＮＡ，回收后再次扩增，ＡｌｕＩ消化，电泳直接检测了ＶＮＴＲ基因型，解决了Ａｍｐ－ＦＬＰ－ＲＦＬＰ分析中无法判定基因型的难题。首次将ＳＳＣＰ应用于微卫星ＤＮＡ亚型的检测，检出一个ＶＮＴＲ亚型。

The VNTR in the intron 40 of vWF gene was investigated with a method of combination of Amp-FLP and RFLP. Two amplified fragments from a heterozygous person were separated by a non-hydratable polyacrylamide electrolyte gradient electrophoresis. After elution from gel, the preliminary products were amplified again, the amplified fragments were digested with AluI,then the genotype could be directly determined through eletrophoresis. For the first time SSCP was used to detect the subtypes of microsatellite DNA.136 alleles were found from 156 unrelated Hans in Changsha area. There were 153 genotypes in this sample and all of them were heterozygous.The calculated heterozygosity was 0.9884.The distribuThis research was accomplished in the State Key Laboratory of Medical Genetics of Hunan Medical University and Supported by the Fund for open research of this laboratory. Received September 8, 1994This research was accomplished in the State Key Laboratory of Medial Genetics of Hunan Medical University and Supported by the Fund for open research of this laboratory.Received September 8,1994tion of genotypes was in according with the Hardy-Weinberg equilibrium.The polymorphic information content(PIC)was 0.9883.The polymorphism of this VNTR was the highest one in the Amp-FLPs that had been found before. Our data did not show any recombination event in 2 generations of 66 families and 3 generations of 5 families.Aco-dominant segregation was demonstrated.