Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European families. Using highly polymorphic microsatellite DNA markers, we have assigned a second gene for ADPKD to chromosome 4. In eight families with clear evidence against linkage to chromosome 16 markers, linkage analysis with the markers D4S231 and D4S423, demonstrated a multipoint lod score of 22.42.
Peters
D J
DJ
Department of Human Genetics, Leiden University, Sylvius Laboratories, The Netherlands.
Spruit
L
L
Saris
J J
JJ
Ravine
D
D
Sandkuijl
L A
LA
Fossdal
R
R
Boersma
J
J
van Eijk
R
R
Nørby
S
S
Constantinou-Deltas
C D
CD
D000328:Adult; D002894:Chromosomes, Human, Pair 4; D004274:DNA, Recombinant; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*
D004274:DNA, Recombinant