Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family.
Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred, unlinked to chromosome 16, with over 250 members was studied using both DNA and classical markers. In total, 29 informative marker loci on 11 autosomes have been analyzed for linkage with PKD. The data significantly exclude the linkage with disease locus from 17 marker loci and show no evidence of close linkage with the other loci.
Department of Genetics, Boys Town National Research Hospital, Omaha, NE 68131.
S
S
Kumar
W J
WJ
Kimberling
P A
PA
Gabow
J B
JB
Kenyon
D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007558:Italy; D008126:Lod Score; D008297:Male; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
D005819:Genetic Markers