【常染色体显性多囊肾病的分子遗传学诊断】。

Sbornik lekarsky Pub Date : 2002-01-01
J Reiterová, M Merta, J Stekrová, V Tesar
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引用次数: 0

摘要

常染色体显性多囊肾病(ADPKD)是最常见的肾脏遗传性疾病。囊肿的发展损害了肾功能。ADPKD患者通常会影响其他器官。目前,捷克已经建立了利用微卫星对ADPKD进行连锁分析的方法。分子分析允许危险个体的症状前诊断和受影响家庭的产前诊断。突变检测是由捷克共和国的赠款支持进行的。突变的检测将有助于在有争议的病例中更准确地诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Molecular genetic diagnosis of autosomal dominant polycystic kidney disease].

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disease of kidney. The renal function is impaired by the development of the cysts. Patients with ADPKD have often affected other organs. Nowadays there is established linkage analysis of ADPKD using microsatellites in Czech Republic. Molecular analysis allows presymptomatic diagnosis in risk-individuals and prenatal diagnosis in affected families. The detection of mutations is performed supporting by the grant in Czech Republic. The detection of mutation will contribute to more precise diagnosis in controversial cases.

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