中国人血浆α_1-抗胰蛋白酶等位基因的频率分布

本文用凝胶聚焦电泳方法测定了1049个彼此无关的中国人血浆α_1-抗胰蛋白酶的表型。在本群体中没有发现在大多数高加索人群体中常见的缺失型变异体Z和低活力型变异体S。本群体中常见的α_1-抗胰蛋白酶变异体是一种中性变异体,Etokyo,该变异体仅在日本人当中发现过。因此,作为慢性阻塞性肺病或一些其它肺病以及肝病的素因,α_1-抗胰蛋白酶的遗传缺失,在中国人当中不象在大多数高加索人群体当中那样重要。     

ALLELIC FREQUENCIES OF PLASMA ALPHA-1-ANTITRYPSIN IN CHINESE

Alpha-1-antitrypsin (Pi) types and subtypes in a Chinese population of 1049 unrelatedindividuals in Beijing were determined by separator isoelectric focusing. The low activityPi variant S and the deficient Pi variant Z, common in most Caucasian populations, are ab-sent in the Chinese population. The frequent Pi variant found in the Chinese population isa neutral mutant, Etokyo, which was only found in Japanese before. Thus, it is concludedthat, as a predisposition of obstructive or some other lung diseases and liver diseases, thegenetic determined deficiency of alpha-1-antitrypsin in Chinese is not so important as in mostCaucasian populations.