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哈特派人群中的常染色体隐性青少年白内障。

Autosomal recessive juvenile cataract in Hutterites.

作者信息

Pearce W G, Mackay J A, Holmes T M, Morgan K, Fowlow S B, Shokeir M H, Lowry R B

机构信息

Department of Ophthalmology, University of Alberta, Edmonton, Canada.

出版信息

Ophthalmic Paediatr Genet. 1987 Jun;8(2):119-24. doi: 10.3109/13816818709028527.

Abstract

Autosomal recessive inheritance of juvenile cataract is described amongst several related sibships of Lehrerleut Hutterites. The main features of the cataract include onset between three and seven years of age; rapid progression to maturity within one to three months; normal intelligence; no systemic associations, and no urinary reducing substances and normal erythrocyte galactokinase activity. Genetic analysis demonstrates the close relationship between parents of affected sibships with a coefficient of inbreeding of affected sibships of 0.0512. Estimates of heterozygote frequency within Lehrerleut Hutterites at 0.128 indicate that if current inbreeding practice continues additional cases can be expected.

摘要

在莱勒鲁特哈特派的几个相关同胞关系中描述了青少年白内障的常染色体隐性遗传。白内障的主要特征包括:发病年龄在3至7岁之间;在1至3个月内迅速发展至成熟;智力正常;无全身相关性,无尿还原物质且红细胞半乳糖激酶活性正常。遗传分析表明,患病同胞关系的父母之间关系密切,患病同胞关系的近交系数为0.0512。莱勒鲁特哈特派中杂合子频率估计为0.128,这表明如果目前的近亲繁殖做法继续下去,预计会出现更多病例。

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