Two Step Procedure for Early Diagnosis of Polycystic Kidney Disease with Polymorphic DNA Markers on Both Sides of the Gene

Overview

Journal J Med Genet

Specialty Genetics

Date 1990 Oct 1

PMID 1978861

Citations 6

Authors

M H Breuning

F G Snijdewint

J G Dauwerse

J J Saris

E Bakker

P L Pearson

G J vanOmmen

Affiliations

Soon will be listed here.

Abstract

Polymorphic DNA markers can now be used for presymptomatic and prenatal diagnosis of the autosomal dominant form of polycystic kidney disease (PKD). A detailed map is known for the chromosomal region around the PKD1 gene on the short arm of chromosome 16. We present here a simple, two step procedure for diagnosis of PKD1 by family studies. Using this approach, at least 92% of random subjects are informative for polymorphic DNA markers bracketing the PKD1 gene. The recombination rate between these flanking markers is on average 10%. In non-recombinants (90% of family members), the accuracy of diagnosis using DNA markers is greater than 99%. We conclude that sufficient well defined DNA markers are now available for routine diagnosis of PKD1. We recommend, however, that prenatal diagnosis of PKD by chorionic villi sampling should be attempted only after the linkage phase of the DNA markers has been established by haplotyping the index family. Since autosomal dominant PKD has been found to be genetically heterogeneous, families should be of sufficient size to rule out the rare form of PKD not caused by a mutation on the short arm of chromosome 16.

Citing Articles

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

Thomas R, McConnell R, Whittacker J, Kirkpatrick P, Bradley J, Sandford R Am J Hum Genet. 1999; 65(1):39-49.

PMID: 10364515 PMC: 1378073. DOI: 10.1086/302460.

Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register.

Elles R, Hodgkinson K, Mallick N, ODonoghue D, Read A, Rimmer S J Med Genet. 1994; 31(2):115-20.

PMID: 8182715 PMC: 1049671. DOI: 10.1136/jmg.31.2.115.

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

Taschner P, De Vos N, Thompson A, Callen D, Doggett N, Mole S Am J Hum Genet. 1995; 56(3):663-8.

PMID: 7887420 PMC: 1801154.

Genetic heterogeneity of polycystic kidney disease in Bulgaria.

Bogdanova N, Dworniczak B, Dragova D, Todorov V, Dimitrakov D, Kalinov K Hum Genet. 1995; 95(6):645-50.

PMID: 7789949 DOI: 10.1007/BF00209481.

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

Breuning M, Snijdewint F, Brunner H, Verwest A, Ijdo J, Saris J J Med Genet. 1990; 27(10):603-13.

PMID: 1978860 PMC: 1017238. DOI: 10.1136/jmg.27.10.603.

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