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Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity

 

作者: Andreas Gal,   Brunhilde Wirth,   Helena Kääriäinen,   Gerard Lucotte,   Paul Landais,   Gabriele Gillessen‐Kaesbach,   Dirk E. Müller‐Wiefel,   Klaus Zerres,  

 

期刊: Clinical Genetics  （WILEY Available online 1989）
卷期: Volume 35, issue 1  

页码: 13-19

 

ISSN:0009-9163

 

年代: 1989

 

DOI:10.1111/j.1399-0004.1989.tb02900.x

 

出版商: Blackwell Publishing Ltd

 

关键词: autosomal dominant inheritance;cystic kidneys;early manifestation;genetic heterogeneity;linkage analysis;polycystic kidney disease

 

数据来源: WILEY

 

摘要:

Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried out with a cloned DNA sequence from the alphaglobin locus known to be closely linked to the disease gene in adult onset ADPKD. In the families studied here, close linkage (θmax= 0.09 at Zmax= 2.32) was also observed between the marker and disease loci. These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset

 

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