Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction.
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.
Turco
A
A
Institute of Biological Sciences and Genetics, University of Verona, School of Medicine, University Hospital Polyclinic B. Roma, Italy.
Peissel
B
B
Quaia
P
P
Morandi
R
R
Bovicelli
L
L
Pignatti
P F
PF
D000483:Alleles; D015193:Chorionic Villi Sampling; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005819:Genetic Markers