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以色列北部先天性耳聋的血缘关系分析。

Consanguinity analysis of congenital deafness in Northern Israel.

作者信息

Costeff H, Dar H

出版信息

Am J Hum Genet. 1980 Jan;32(1):64-8.

Abstract

Consanguinity analysis of heterogeneous populations was performed on a group of 82 Israeli Jewish families with congenitally deaf probands, including 37 multiplex families with normal parents, 10 multiplex families with deaf parents, and 35 simplex families with deafness of unknown cause. Representative gene frequency was estimated as .0198, with two to four major gene loci per ethnic group. In both the simplex families and those with deaf parents, the only significant etiology found was homozygosity for pathologic recessive genes. Comparison of these findings in Israeli isolates with those in panmictic populations seems to imply that the genetic loci are not identical in the various isolates.

摘要

对一组82个以先天性耳聋为先证者的以色列犹太家庭进行了异质群体的血缘关系分析,其中包括37个父母正常的多重家庭、10个父母耳聋的多重家庭以及35个病因不明的单重家庭。代表性基因频率估计为0.0198,每个种族群体有两到四个主要基因位点。在单重家庭和父母耳聋的家庭中,发现的唯一重要病因是病理性隐性基因的纯合性。将以色列隔离群体中的这些发现与随机交配群体中的发现进行比较,似乎意味着不同隔离群体中的基因位点并不相同。

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