Summary
The mutation for adult polycystic kidney disease (APKD) has previously been localised to chromosome 16 by the demonstration of genetic linkage with the loci for the alpha-chain of haemoglobin and phosphoglycolate phosphatase. These studies were carried out, however, on only nine families so that the possibility remained that mutations at other genetic loci might produce the disease. Such genetic heterogeneity of linkage would invalidate the general use of chromosome 16 markers for the purposes of detection of the disease, and complicate the characterisation of APKD at the molecular level. Therefore further families were studied to address this question. A total of 28 northern European pedigrees were analysed, all apparently unrelated, and with origins in England, Scotland, Holland and eastern Finland. No evidence was found to suggest heterogeneity of genetic linkage between alpha-globin and the APKD locus in this population.
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Bear JC, McManamon P, Morgan J, Payne RH, Lewis H, Gault MH, Churchill DN (1984) Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease — data for genetic counselling. Am J Med Genet 18:45–53
Churchill DN, Bear JC, Morgan J, Payne RH, McManamon PJ, Gault MH (1984) Prognosis of adult onset polycystic kidney disease reevaluated. Kidney Int 26:190–193
Dalgaard OZ (1957) Bilateral polycystic disease of the kidneys. A follow up of 284 patients and their families. Acta Med Scand 328:1–233
Deisseroth A, Hendrick D (1978) Human α-globin gene expression following chromosomal dependent gene transfer into mouse erythroleukemia cells. Cell 15:55–63
Higgs DR, Wainscoat JS, Flint J, Hill AVS, Thein SL, Nicholls RD, Teal H, Ayyub H, Peto TEA, Falusi Y, Jarman AP, Clegg JB, Weatherall DJ (1986) Analysis of the human α-globin gene cluster reveals a highly informative genetic locus. Proc Natl Acad Sci USA 83:999
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460–465
Lowrie EG, Hampers CL (1981) The success of medicare's end-stage renal disease program: the case for profits and the private marketplace. N Engl J Med 305:434–438
Morton NE (1956) The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet 8:80–96
Nicholls RD, Hill AVS, Clegg JB, Higgs DR (1985) Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment. Nucleic Acids Res 13:7569–7578
Ott J (1985) Analysis of human linkage. Johns Hopkins, Baltimore
Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PR, Weatherall DJ (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542–544
Reeders ST, Breuning MH, Corney G, Jeremiah SJ, Meera Khan P, Davies KE, Hopkinson DA, Pearson PL, Weatherall DJ (1986a) Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J 292:851–853
Reeders ST, Zerres K, Gal A, Hogenkamp T, Propping P, Schmidt W, Waldherr R, Dolata MM, Davies KE, Weatherall DJ (1986b) Prenatal diagnosis of autosomal dominant polycystic kidney disease using a DNA probe. Lancet I:1
Sahney S, Weiss L, Levin NW (1982) Genetic counselling in adult polycystic kidney disease. Am J Med Genet 11:461–468
Smith CAB (1963) Testing for heterogeneity of recombination fraction values in human genetics. Ann Hum Genet 27:175–182
Weatherall DJ (1986) The new genetics and clinical practice, 2nd edn. Oxford University Press, Oxford
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Reeders, S.T., Breuning, M.H., Ryynanen, M.A. et al. A study of genetic linkage heterogeneity in adult polycystic kidney disease. Hum Genet 76, 348–351 (1987). https://doi.org/10.1007/BF00272443
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DOI: https://doi.org/10.1007/BF00272443