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

Abstract

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 gene1. 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 unknown2. 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 used3. Patients with the disease account for 9% of chronic dialysis requirement4. The first symptoms tend to occur in the fourth decade, after most patients have reproduced3. 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 diagnosis5. 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 α-globin locus on the short arm of chromosome 16 (ẑ = 25.85, θ̂=0.05).

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Reeders, S., Breuning, M., Davies, K. et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317, 542–544 (1985). https://doi.org/10.1038/317542a0

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