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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.
Turco, A; Peissel, B; Gammaro, L; Maschio, G; Pignatti, P F.
Afiliação
  • Turco A; Institute of Biological Sciences, University of Verona School of Medicine, Strada Le Grazie, Italy.
Clin Genet ; 40(4): 287-97, 1991 Oct.
Article em En | MEDLINE | ID: mdl-1684535
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.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 16 / Região Variável de Imunoglobulina / Rim Policístico Autossômico Dominante / Ligação Genética Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 1991 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 16 / Região Variável de Imunoglobulina / Rim Policístico Autossômico Dominante / Ligação Genética Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 1991 Tipo de documento: Article