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家族性缺陷中人类补体成分C7基因的DNA多态性

DNA polymorphism of the human complement component C7 gene in familial deficiencies.

作者信息

Coto E, Martínez-Naves E, Domínguez O, López-Larrea C

机构信息

Servicio de Inmunología, Hospital Covadonga, Oviedo, Spain.

出版信息

Hum Genet. 1990 Jul;85(2):251-2. doi: 10.1007/BF00193207.

Abstract

A C7 cDNA probe detecting a TaqI restriction fragment length polymorphism has been used to examine the segregation of the "silent allele" (C7Q0) in two familial deficiencies. Carrier diagnosis in healthy children is possible when both parents are heterozygotes. Only one of these two families was informative. The "silent allele" is linked to different TaqI alleles in both families. This suggests that at least two different C7Q0 alleles are present in our population. This paper gives a protocol for genetic studies of hereditary traits in which the C7 gene and other genes tightly linked to it are involved.

摘要

一种检测TaqI限制性片段长度多态性的C7 cDNA探针已被用于检测两个家族性缺陷中“沉默等位基因”(C7Q0)的分离情况。当父母双方均为杂合子时,有可能对健康儿童进行携带者诊断。这两个家族中只有一个家族提供了有用信息。在这两个家族中,“沉默等位基因”与不同的TaqI等位基因连锁。这表明在我们的人群中至少存在两种不同的C7Q0等位基因。本文给出了一个涉及C7基因及其紧密连锁的其他基因的遗传性状基因研究方案。

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