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α1-抗胰蛋白酶Z缺陷等位基因的优先传递。

Preferential transmission of the Z deficient allele of alpha 1-antitrypsin.

作者信息

Chapuis-Cellier C, Arnaud P

出版信息

Science. 1979 Jul 27;205(4404):407-8. doi: 10.1126/science.313077.

Abstract

The transmission of the Z deficient allele of alpha 1-antitrypsin was studied in 23 families, each with a single parent heterozygous for this allele. When the mother carried the Z allele, the distribution of phenotypes in the children did not differ significantly from the expected frequency. In contrast, when the father was the carrier, a significant increase of heterozygous phenotypes was observed in the children. This observation suggests that a selective advantage is associated with the expression of the Z allele in male gametes.

摘要

对23个家庭中α1-抗胰蛋白酶Z缺陷等位基因的传递情况进行了研究,每个家庭都有一位单亲是该等位基因的杂合子。当母亲携带Z等位基因时,孩子的表型分布与预期频率没有显著差异。相比之下,当父亲是携带者时,在孩子中观察到杂合子表型显著增加。这一观察结果表明,Z等位基因在雄配子中的表达具有选择性优势。

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