α_1-抗胰蛋白酶遗传多态性及其与疾病的关系  

ASSOCIATION BETWEEN THE POLYMORPHISM OF α-AT AND SOME DISEASES

作　　者：于世辉[1] 张贵寅[1] 赵会全[1] 段玉芹[1] 李璞[1] 霍健民 寇俊杰[2] 曹茂荣 杨树森[2] 

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医院

出　　处：《遗传与疾病》1989年第4期193-195,247+258,共3页

基　　金：国家自然科学基金

摘　　要：本文检测了749名正常汉族人及5种疾病760例患者血清口,α_1-抗胰蛋白酶的遗传类型。肝癌、肝硬化疾病组血清α_1-抗胰蛋白酶的基因频率与正常对照组比较差异显著。本研究所得最常见的α_1-抗胰蛋白酶变异型基因是Pi^(Etokyo),没有发现白人群体常见的缺失型基因Pi^Z和Pi^S。The phenotypes of α_1-AT from 749 normal Chinese persons and 760 Chinses patients in 5 disease groups were determined. Compared with the control group the gene frequencies in cirrhosis and hepatoma groups were significantly different, which suggesting certain association between the distribution of α-AT alleles and the two kinds of diseases. The relatively common variant gene in Chinese population is PiEtokyo, while Pi^Z and Pi^S which are relatively freqnent in white population have not been observed. So, as a predisposition of chronic obstructive pulmonary disease or some other lung diseases and liver diseases, the genetically determined deficiency of α_1-AT in Chinese is not so important as in white population.

关 键 词：遗传多态性 α抗胰蛋白酶 疾病 

分 类 号：Q346.5[生物学—遗传学]