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分子遗传学与多囊肾病

Molecular genetics and polycystic kidney diseases.

作者信息

Bachner L, Kaplan J C

机构信息

Maître de Conferénces des Universités, Practicien Hospitalier, Paris, France.

出版信息

Adv Nephrol Necker Hosp. 1989;18:3-18.

PMID:2564249
Abstract

Polycystic kidney diseases (PKDs) comprise a group of common disorders, inherited as a monofactorial trait, usually dominant but sometimes recessive. The origin and mechanism of these diseases are unknown. Molecular genetics has now provided the means to seek the diseased gene(s), however, and, once found, to unravel the protein sequence and ultimately to understand the pathophysiology of these disorders.

摘要

多囊肾病(PKDs)是一组常见疾病,呈单基因性状遗传,通常为显性遗传,但有时也为隐性遗传。这些疾病的起源和机制尚不清楚。然而,分子遗传学现已提供了寻找致病基因的方法,一旦找到致病基因,便可解析蛋白质序列,并最终了解这些疾病的病理生理学。

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