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波兰人群中补体C3成分的多态性。II. C3系统中的罕见表型。

Polymorphism of C3 component of complement in the Polish population. II. Rare phenotypes in C3 system.

作者信息

Mańczak M

出版信息

Arch Immunol Ther Exp (Warsz). 1985;33(3):443-52.

PMID:4062509
Abstract

In a sample of the Polish population including 4741 adults, 15 phenotype variants were found in 22 of them. These variants are determined by 12 rare alleles of the mean frequency 0.0023. Family studies of several probands with C3 phenotype variants have confirmed their genetic determination. They have been observed to be heterozygotes in which beside one common gene, rare codominant alleles are situated. Studies on polymorphism of C3 component carried out on numerous populations, allowed the discovery of new phenotype variants within the C3 group system. Family studies have confirmed their hereditary character and that they are determined by the alleles codominant in relation to the commonly occurring C3S and C3F. The paper presents the results of studies on the rare C3 phenotype variants encountered in the Polish population.

摘要

在一个包含4741名成年人的波兰人群样本中,在其中22人身上发现了15种表型变体。这些变体由12个平均频率为0.0023的罕见等位基因决定。对几名具有C3表型变体的先证者进行的家系研究证实了它们的遗传决定性。观察发现他们是杂合子,除了一个常见基因外,还存在罕见的共显性等位基因。对众多人群进行的C3成分多态性研究,使得在C3组系统内发现了新的表型变体。家系研究证实了它们的遗传特征,以及它们由相对于常见的C3S和C3F共显性的等位基因所决定。本文介绍了在波兰人群中遇到的罕见C3表型变体的研究结果。

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