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Four novel mutations of the PKD2 gene in czech families with autosomal dominant polycystic kidney disease
Author(s) -
Reiterová J.,
Štekrová J.,
Peters D.J.M.,
Kapras J.,
Kohoutová M.,
Merta M.,
Židovská J.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9035
Subject(s) - pkd1 , biology , genetics , point mutation , autosomal dominant polycystic kidney disease , single strand conformation polymorphism , heteroduplex , gene , genetic linkage , coding region , mutation , polycystic kidney disease , gene mutation , genetic heterogeneity , microbiology and biotechnology , kidney , phenotype
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in the PKD2 gene are responsible for approximately 15% of the cases of the disease. We have screened 14 Czech families for mutation in the PKD2 gene. Clear evidence against linkage to the PKD1 gene was established by CA‐repeat markers in five families. The disease could be linked to both genes according to linkage analysis in nine families but we have chosen these families because of the mild clinical course. An affected member from each family was analyzed by heteroduplex analysis (HA) and single strand conformation polymorphism (SSCP) for all 15 coding regions. Samples exhibiting shifted bands on HA or SSCP gels were sequenced. We detected five mutations (four new, and one which was previously described) and two polymorphisms. The four new mutations include one insertion, one deletion, one substitution (leading to premature translation stop), one amino acid substitution. Our results confirm that different point or small changes distributed throughout the PKD2 gene without clustering are responsible for the disease. © 2002 Wiley‐Liss, Inc.