title: Predictive diagnosis for polycystic kidney disease using DNA markers.
abstract: Two families in which the gene for the common, autosomal dominant form of polycystic kidney disease (PKD1) was present were examined using flanking DNA markers. The 5'HVR probe detects a linked DNA marker 8 map units distal to the PKD1 gene in males and 1 unit distal to the PKD1 gene in females. The 24-1 probe detects another linked DNA marker 4 map units proximal to the PKD1 gene in males and 0.5 map units proximal to the PKD1 gene in females. When each marker is informative they can be used as a pair flanking the disease gene to follow accurately its transmission through families for presymptomatic or prenatal prediction. For an asymptomatic individual tested in one family, DNA studies reduced the 50% prior risk of carrying the disease gene to 0.006%. An affected woman in a second family was shown to be fully informative for the flanking markers. In a future pregnancy, it will be possible to modify the 50% prior fetal risk to either 0.008% or 99.99% depending on which maternal chromosome 16 is transmitted, and provided that no cross-over occurs between the flanking markers (probability, 1.5%).
authors.affiliation: Adelaide Children's Hospital, North Adelaide, SA.
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
authors.forename: A K
authors.initials: AK
authors.lastname: Gedeon
authors.forename: G R
authors.initials: GR
authors.lastname: Sutherland
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers / Q000032:analysis; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000235:genetics; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D011296:Prenatal Diagnosis; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers; D004247:DNA