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索马里一组新生儿的α-1-抗胰蛋白酶表型

Alpha-1-antitrypsin phenotypes in a group of newborn infants in Somalia.

作者信息

Massi G, Vecchio F M

出版信息

Hum Genet. 1977 Oct 14;38(3):265-9. doi: 10.1007/BF00402151.

Abstract

Pi phenotype determinations were performed on umbilical cord serum specimens of 347 infants born in Mogadishu (Somalia) hospitals. Phenotyping was performed by isoelectric focusing on polyacrylamide gel slabs. Sera containing alpha1AT in types other than MM were also studied by crossed antigen-antibody immunoelectrophoresis on agar. The most frequently occuring Pi allele proved to be PiM. With respect to the other African populations studied so far, there was a high prevalence of the PiS and PiZ alleles. In particular, three individuals were found with the ZZ phenotype, which had not yet been observed in Africa.

摘要

对在摩加迪沙(索马里)医院出生的347名婴儿的脐带血清样本进行了Pi表型测定。表型分析通过在聚丙烯酰胺凝胶板上进行等电聚焦来完成。对于含有非MM型α1抗胰蛋白酶的血清,还通过在琼脂上进行交叉抗原 - 抗体免疫电泳进行了研究。最常见的Pi等位基因被证明是PiM。与迄今为止研究的其他非洲人群相比,PiS和PiZ等位基因的患病率较高。特别是发现了三名具有ZZ表型的个体,这在非洲尚未观察到。

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