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Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction
Author(s) -
Turco Alberto,
Peissel Bernard,
Quaia Piero,
Morandi Raffaella,
Bovicelli Luciano,
Pignatti Pier Franco
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970120606
Subject(s) - pkd1 , locus (genetics) , genetics , polymerase chain reaction , biology , prenatal diagnosis , haplotype , autosomal dominant polycystic kidney disease , genetic marker , polycystic kidney disease , fetus , genotype , kidney , gene , pregnancy
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 PKD2 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.