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意大利的α1抗胰蛋白酶(α1AT)表型和PiM亚型。显著地理变异性的证据。

Alpha-1-antitrypsin (alpha 1AT) phenotypes and PiM subtypes in Italy. Evidence of considerable geographic variability.

作者信息

Massi G, Cotumaccio R, Auconi P

出版信息

Hum Genet. 1982;61(1):76-7. doi: 10.1007/BF00291340.

Abstract

Genetic typing of alpha 1AT was performed in 3751 individuals from Italian towns. The following was observed: (a) The pathologic phenotypes (SZ, MZ, ZZ) appeared to decrease progressively from northern to southern Italy; (b) the distribution of the PiM suballeles showed considerable geographic variability, but the suballele M2 was more frequently encountered in southern Italy; and (c) in the large cities of southern Italy, the frequency of the deficiency more closely resembled that found in northern Italy than that of the remaining populations of the south.

摘要

对来自意大利各城镇的3751人进行了α1抗胰蛋白酶(alpha 1AT)基因分型。观察到以下情况:(a) 病理表型(SZ、MZ、ZZ)似乎从意大利北部到南部逐渐减少;(b) PiM次等位基因的分布显示出相当大的地理变异性,但次等位基因M2在意大利南部更常见;(c) 在意大利南部的大城市中,缺陷的频率与意大利北部的频率更为相似,而不是南部其他人群的频率。

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