A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

Adult polycystic kidney disease (APCKD) is a common and often lethal multi-organ disease with an autosomal dominant pattern of inheritance; approximately 1 in 1,000 people carry the mutant gene. The major pathological abnormality is the development and progressive enlargement of cysts in several org...

Full description

Saved in:
Bibliographic Details
Published in:Nature (London) 1985-10, Vol.317 (6037), p.542-544
Main Authors: Reeders, S. T, Breuning, M. H, Davies, K. E, Nicholls, R. D, Jarman, A. P, Higgs, D. R, Pearson, P. L, Weatherall, D. J
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosomes, Human, 16-18
DNA - analysis
DNA Restriction Enzymes - metabolism
Female
Genetic Linkage
Humans
Kidneys
Male
Malformations of the urinary system
Medical sciences
Nephrology. Urinary tract diseases
Pedigree
Polycystic Kidney Diseases - genetics
Polymorphism, Genetic
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Adult polycystic kidney disease (APCKD) is a common and often lethal multi-organ disease with an autosomal dominant pattern of inheritance; approximately 1 in 1,000 people carry the mutant gene. The major pathological abnormality is the development and progressive enlargement of cysts in several organs including the liver, pancreas and spleen as well as the kidneys. The basic biochemical defect which leads to the formation of cysts remains unknown. Cyst development, which is not retarded by any known therapy, leads to irreversible renal failure and death at a mean age of 51 unless dialysis or transplantation are used. Patients with the disease account for 9% of chronic dialysis requirement. The first symptoms tend to occur in the fourth decade, after most patients have reproduced. Presymptomatic diagnosis depends on the ultrasonographic detection of cysts, but exclusion cannot be achieved by this means; 34% of at-risk patients in the second decade and 14% in the third will go on to develop cysts after negative diagnosis. The low sensitivity of diagnostic techniques in this critical age-range imposes severe limitations on genetic counselling and the condition cannot be identified prenatally. Hence we have searched for a linkage marker for APCKD; we show here that the APCKD locus is closely linked to the alpha-globin locus on the short arm of chromosome 16 (zeta = 25.85, theta = 0.05).
ISSN:0028-0836
1476-4687
DOI:10.1038/317542a0