中国5个群体抗凝血酶Ⅲ遗传多态性的研究

Genetic Polymorphism of Antithrombin Ⅲ in Five Chinese Populations *

应用聚丙烯酰胺凝胶等电聚焦硝酸纤维素薄膜被动蛋白转移酶免疫检测技术调查了中国４个民族５个群体（ｎ＝６４５）抗凝血酶Ⅲ（ＡＴⅢ）的遗传多态性，发现在大多数中国个体中都存在ＡＴⅢ＊１等位基因，基因频率介于０．９７７３～０．９８５０，而中国群体中ＡＴⅢ＊２等位基因频率均较低，介于０．００９１～０．０１６９。本次调查还发现了ＡＴⅢ１种“阳极变异”和３种“阴极变异”。本研究表明中国人ＡＴⅢ血型系统在蛋白质水平上所能提供的多态性信息量有限。

The genetic polymorphisms of antithrombin Ⅲ(ATⅢ) in 5 Chinese populations were studied by isoelectric focusing on polyacrylamide gels followed by immunoblotting. The products of two alleles at the antithrombin Ⅲ locus together with 1 ATⅢ anodic variant and 3 cathode variants were observed. The results revealed that the predominant allele of ATⅢ blood group system in Chinese populations was ATⅢ*1, with frequencies between 0.9773 0.9850. Frequencies of ATⅢ*2 ranged from 0.0091 to 0.0169. These results indicate that the polymorphic information content of ATⅢ blood group system in Chinese populations is limited.[FL)〗