Predictive diagnosis for polycystic kidney disease using DNA markers

J. Mulley, E. A. Haan, A. K. Gedeon, G. R. Sutherland

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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%).

Original languageEnglish
Pages (from-to)287-289
Number of pages3
JournalMedical Journal of Australia
Volume152
Issue number6
Publication statusPublished - 1 Jan 1990
Externally publishedYes

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Mulley, J., Haan, E. A., Gedeon, A. K., & Sutherland, G. R. (1990). Predictive diagnosis for polycystic kidney disease using DNA markers. Medical Journal of Australia, 152(6), 287-289.