Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers

M H Breuning; S T Reeders; H Brunner; J W Ijdo; J J Saris; A Verwest; G J van Ommen; P L Pearson

doi:10.1016/s0140-6736(87)91256-6

Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers

Lancet. 1987 Dec 12;2(8572):1359-61. doi: 10.1016/s0140-6736(87)91256-6.

Authors

M H Breuning¹, S T Reeders, H Brunner, J W Ijdo, J J Saris, A Verwest, G J van Ommen, P L Pearson

Affiliation

¹ Institute of Human Genetics, Sylvius Laboratories, University of Leiden, The Netherlands.

PMID: 2890952
DOI: 10.1016/s0140-6736(87)91256-6

Abstract

A new polymorphic DNA marker for the diagnosis of autosomal dominant adult polycystic kidney disease (APKD) has been identified. The new marker, 24-1, flanks the APKD gene on the side opposite to the alpha globin on the short arm of chromosome 16. When both DNA polymorphisms bracketing the gene are informative the reliability of prenatal and presymptom diagnosis of polycystic kidney disease in non-recombinants (92% of cases) is more than 99%.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alleles
Chromosomes, Human, Pair 16
Evaluation Studies as Topic
Female
Genetic Linkage
Genetic Markers*
Globins / genetics
Humans
Male
Pedigree
Polycystic Kidney Diseases / diagnosis*
Polycystic Kidney Diseases / genetics
Polymorphism, Restriction Fragment Length
Recombination, Genetic

Substances

Genetic Markers
Globins