Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families.
Sixty-eight individuals from six Italian families in which autosomal dominant polycystic kidney disease (ADPKD) is segregating, were typed in DNA polymorphisms linked to the PKD1 locus on chromosome 16. A total of ten probes were used: 3' HVR, HMJ1, EKMDA, GGG1, 26-6, VK5B, 218EP6, 24.1, CRI090, and 41.1. Zmax was 4.502 at theta = 0.082 between ADPKD and 3'HVR, and 4.382, 1.947, and 1.576 between ADPKD and GGG1, 26.6, and 218EP6, respectively, at theta = 0.0. No clear evidence of genetic heterogeneity was found. Multipoint analyses were consistent with linkage to PKD1. Twenty-nine diagnoses and 16 exclusions made by ultrasonography were confirmed by genotype determinations; in two clinically uncertain cases, DNA analysis predicted one individual as being affected and the other unaffected.
Institute of Biological Sciences, University of Verona School of Medicine, Strada Le Grazie, Italy.
A
A
Turco
B
B
Peissel
L
L
Gammaro
G
G
Maschio
P F
PF
Pignatti
D000328:Adult; D002885:Chromosomes, Human, Pair 16; D015342:DNA Probes; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D007558:Italy / Q000453:epidemiology; D007676:Kidney Failure, Chronic / Q000000981:diagnostic imaging / Q000235:genetics; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014463:Ultrasonography
D015342:DNA Probes; D007135:Immunoglobulin Variable Region