西藏地区藏族群体α_1-抗胰蛋白酶的遗传多态性及一种新的Pi变异型

Genetic Polymorphism of α_1-Antitrypsin in Tibetan Population in Tibet with a New Pi Variant

作者用超薄层聚丙烯酰胺凝胶等电聚焦技术,调查了204名西藏地区无血缘关系藏族个体血清α_1-抗胰蛋白酶(Pi)的表型,除检出6种常见PiM亚型外,还检出了4种变异型。其中,1种是国内外尚未见报道的新的Pi变异型,1种是缺陷型,其血清Pi相对含量为69.51％,推算出Pi等位基因频率为:Pi^(MI)=0.7624,Pi^(M2)=0.1634,Pi^(M3)=0.0668和Pi~ν=0.0074。

The distribution of subtypes and gene frequencies of α1-antitrypsin were studied in 204 unrelated healthy blood donors in Tibetan population in Tibet using ULPAGIF.Besides six common PiM subtypes,four kinds of Pi variants were detected.They were as follows:PiMyL,R,M1-and a new variant.The relative concentration of M1-was 69.51%.The gene frequencies of Pi alleles were PiMI=0.7624,PiM2=0.1634,PiM3=0.0668,Piv=0.0074.