Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families

A. Turco, B. Peissel, L. Gammaro, G. Maschio, P. F. Pignatti

Research output: Contribution to journalArticle

Abstract

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 GGGI, 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.

Original languageEnglish
Pages (from-to)287-297
Number of pages11
JournalClinical Genetics
Volume40
Issue number4
Publication statusPublished - 1991

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Keywords

  • autosomal dominant polycystic kidney disease (ADPKD)
  • genetic heterogeneity
  • presymptomatic diagnosis
  • RFLPs

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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