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Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families
Author(s) -
Turco Alberto,
Peissel Bernard,
Gammaro Linda,
Maschio Giuseppe,
Pignatti Pier Franco
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03098.x
Subject(s) - genetic heterogeneity , autosomal dominant polycystic kidney disease , genetic linkage , linkage (software) , genetics , biology , genetic counseling , polycystic kidney disease , polycystic kidney , disease , medicine , phenotype , kidney , gene
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, CR1090, 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.