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[视网膜色素变性的常染色体显性遗传传递]

[Autosomal dominant transmission in retinitis pigmentosa].

作者信息

Ghenoiu R

机构信息

Spitalul CFR, Craiova.

出版信息

Oftalmologia. 1993 Oct-Dec;37(4):339-41.

PMID:8286320
Abstract

The family tree, including 5 generations, of a female patient with typical retinitis pigmentosa has been studied. The transmission was irregular autosomal dominant the gene being manifest for 5 generations both to men and women. The gene penetration was 64%; less than evolution of the illness to bilateral cecity. The case seem to be closely related with the recessive forms of transmission.

摘要

我们研究了一位患有典型色素性视网膜炎女性患者的五代家族谱系。其遗传方式为不规则常染色体显性遗传,该基因在五代中均有表现,且男女都有患病。基因外显率为64%;低于疾病发展至双侧失明的比例。该病例似乎与隐性遗传形式密切相关。

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