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Predictive diagnosis for polycystic kidney disease using DNA markers
Author(s) -
Mulley John C.,
Haan Eric A.,
Gedeon Agi K.,
Sutherland Grant R.
Publication year - 1990
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1990.tb120947.x
Subject(s) - pkd1 , genetics , genetic marker , biology , asymptomatic , polycystic kidney disease , gene , polycystic kidney , dna , medicine , kidney
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%).