Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction

A. Turco, B. Peissel, P. Quaia, R. Morandi, L. Bovicelli, P. F. Pignatti

Research output: Contribution to journalArticlepeer-review

Abstract

A prenatal diagnosis was carried out on a 9-week-old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PDK2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity.

Original languageEnglish
Pages (from-to)513-524
Number of pages12
JournalPrenatal Diagnosis
Volume12
Issue number6
DOIs
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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