An efficient linkage analysis strategy for autosomal dominant polycystic kidney disease
Author(s) -
Tamehito Onoe,
Tadashi Konoshita,
Kyoko Miyagi,
Kazunori Yamada,
Hisao Mutoh,
Ichiro Koni,
Hideki Nomura
Publication year - 2003
Publication title -
clinical nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.314
H-Index - 75
ISSN - 0301-0430
DOI - 10.5414/cnp59406
Subject(s) - pkd1 , autosomal dominant polycystic kidney disease , loss of heterozygosity , genetic linkage , microsatellite , genetics , genotyping , genotype , population , biology , medicine , allele , kidney , gene , environmental health
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited renal disorders in the world. Mutations in PKD1 are responsible for 80-95% of all autosomal dominant polycystic kidney disease (ADPKD). Although the need for linkage analysis of ADPKD is decreasing after the success of mutation detection at whole exons of PKD1, linkage analysis still has some advantages in detecting non-PKD1 families, thereby avoiding hopeless mutation analysis.
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