α_1抗胰蛋白酶遗传变异型的研究  

RESEARCH ON GENETIC VARIANTS OF α_1-ANTITRYPSIN

作　　者：于世辉[1] 张贵寅[1] 赵会全[1] 霍健民 段玉芹[1] 宋岩[1] 

机构地区：[1]哈尔滨医科大学医学遗传研究室 [2]哈尔滨医科大学附属第一医院

出　　处：《遗传与疾病》1990年第2期65-67,127+131,共3页

基　　金：国家自然科学基金

摘　　要：作者对汉族等7个民族和慢性阻塞性肺疾患等3个疾病组共2614名个体进行了α_1-AT遗传类型的检测。发现37例变异类型,其中最常见的变异型基因为Pi^(Etokyo),频率为0.0038;没有观察到缺失型基因Pi^z,但在鄂伦春族群体中发现了1例低活力型基因Pis的杂合个体。The genetic variants of α_1-AT were screened for Chinese Han and six Chinese minotity nationalities including Mongollian Korean, Manchu, Tahur, Owenk and Olunchun nationalities and three kinds of diseases, including COPD, liver and connective tissue diseases, closely associated with α_1-AT genetic deficiency. 37 variants of α_1-AT were found in the population with total number of 2614 unrelated individual. The relatively common variants gene in this population is Pi^(etokyo), while Pi^z which is relatively frequent in white population has not been observed, and only one heterozygote of Pi^s was observed. The results suggest certain ties of blood between Chinese Han population and these Chinese minotity nationalities; and, as a predisposition of COPD and other diseases, the genetically determinded deficiency of α_1-AT in Chinese is not so important as in White populations.

关 键 词：抗胰蛋白酶 遗传变异型 1-AT 

分 类 号：R362[医药卫生—病理学]