Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Nov;30(11):910–913. doi: 10.1136/jmg.30.11.910

Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population.

B Peral 1, J L San Millán 1, C Hernández 1, A Valero 1, G M Lathrop 1, J S Beckmann 1, F Moreno 1
PMCID: PMC1016597  PMID: 7905535

Abstract

Although most mutations causing ADPKD in European populations have been mapped to the PKD1 locus on chromosome 16, some of them appear to be unlinked to this locus. To evaluate the incidence of unlinked mutations in Spain we have typed 31 Spanish families from different geographical sites for six closely linked DNA polymorphic marker loci flanking PKD1 detected by probes D16S85, D16S21, D16S259, D16S125, D16S246, and D16S80. Multilocus linkage analysis indicated that in 26 families the disease resulted from PKD1 mutations, whereas in three families it resulted from mutations in a locus other than PKD1. The two other families were not informative. Using the HOMOG test, the incidence of the PKD1 linked mutations in Spain is 85%. Multipoint linkage analysis in the 26 PKD1 families showed that the disease locus lies in the interval between D16S259(pGGG1) and D16S125(26.6).

Full text

PDF
910

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bachner L., Vinet M. C., Lacave R., Babron M. C., Rondeau E., Sraer J. D., Chevet D., Kaplan J. C. Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression. Absence of linkage to the PKD 1 locus. Hum Genet. 1990 Jul;85(2):221–227. doi: 10.1007/BF00193200. [DOI] [PubMed] [Google Scholar]
  2. Bear J. C., McManamon P., Morgan J., Payne R. H., Lewis H., Gault M. H., Churchill D. N. Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling. Am J Med Genet. 1984 May;18(1):45–53. doi: 10.1002/ajmg.1320180108. [DOI] [PubMed] [Google Scholar]
  3. Bear J. C., Parfrey P. S., Morgan J. M., Martin C. J., Cramer B. C. Autosomal dominant polycystic kidney disease: new information for genetic counselling. Am J Med Genet. 1992 Jun 1;43(3):548–553. doi: 10.1002/ajmg.1320430309. [DOI] [PubMed] [Google Scholar]
  4. Breuning M. H., Snijdewint F. G., Brunner H., Verwest A., Ijdo J. W., Saris J. J., Dauwerse J. G., Blonden L., Keith T., Callen D. F. Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). J Med Genet. 1990 Oct;27(10):603–613. doi: 10.1136/jmg.27.10.603. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  6. Germino G. G., Barton N. J., Lamb J., Higgs D. R., Harris P., Xiao G. H., Scherer G., Nakamura Y., Reeders S. T. Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. Am J Hum Genet. 1990 May;46(5):925–933. [PMC free article] [PubMed] [Google Scholar]
  7. Germino G. G., Weinstat-Saslow D., Himmelbauer H., Gillespie G. A., Somlo S., Wirth B., Barton N., Harris K. L., Frischauf A. M., Reeders S. T. The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics. 1992 May;13(1):144–151. doi: 10.1016/0888-7543(92)90214-d. [DOI] [PubMed] [Google Scholar]
  8. Harris P. C., Barton N. J., Higgs D. R., Reeders S. T., Wilkie A. O. A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus. Genomics. 1990 Jun;7(2):195–206. doi: 10.1016/0888-7543(90)90541-2. [DOI] [PubMed] [Google Scholar]
  9. Jarman A. P., Nicholls R. D., Weatherall D. J., Clegg J. B., Higgs D. R. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster. EMBO J. 1986 Aug;5(8):1857–1863. doi: 10.1002/j.1460-2075.1986.tb04437.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Kimberling W. J., Fain P. R., Kenyon J. B., Goldgar D., Sujansky E., Gabow P. A. Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med. 1988 Oct 6;319(14):913–918. doi: 10.1056/NEJM198810063191405. [DOI] [PubMed] [Google Scholar]
  11. Nørby S., Schwartz M. Possible locus for polycystic kidney disease on chromosome 2. Lancet. 1990 Aug 4;336(8710):323–324. doi: 10.1016/0140-6736(90)91870-g. [DOI] [PubMed] [Google Scholar]
  12. Parfrey P. S., Bear J. C., Morgan J., Cramer B. C., McManamon P. J., Gault M. H., Churchill D. N., Singh M., Hewitt R., Somlo S. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med. 1990 Oct 18;323(16):1085–1090. doi: 10.1056/NEJM199010183231601. [DOI] [PubMed] [Google Scholar]
  13. Peters D. J., Sandkuijl L. A. Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol. 1992;97:128–139. doi: 10.1159/000421651. [DOI] [PubMed] [Google Scholar]
  14. Ravine D., Walker R. G., Gibson R. N., Forrest S. M., Richards R. I., Friend K., Sheffield L. J., Kincaid-Smith P., Danks D. M. Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet. 1992 Nov 28;340(8831):1330–1333. doi: 10.1016/0140-6736(92)92503-8. [DOI] [PubMed] [Google Scholar]
  15. Reeders S. T., Breuning M. H., Davies K. E., Nicholls R. D., Jarman A. P., Higgs D. R., Pearson P. L., Weatherall D. J. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature. 1985 Oct 10;317(6037):542–544. doi: 10.1038/317542a0. [DOI] [PubMed] [Google Scholar]
  16. Reeders S. T., Hildebrand C. E. Report of the committee on the genetic constitution of chromosome 16. Cytogenet Cell Genet. 1989;51(1-4):299–318. doi: 10.1159/000132796. [DOI] [PubMed] [Google Scholar]
  17. Romeo G., Devoto M., Costa G., Roncuzzi L., Catizone L., Zucchelli P., Germino G. G., Keith T., Weatherall D. J., Reeders S. T. A second genetic locus for autosomal dominant polycystic kidney disease. Lancet. 1988 Jul 2;2(8601):8–11. doi: 10.1016/s0140-6736(88)92943-1. [DOI] [PubMed] [Google Scholar]
  18. Somlo S., Wirth B., Germino G. G., Weinstat-Saslow D., Gillespie G. A., Himmelbauer H., Steevens L., Coucke P., Willems P., Bachner L. Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers. Genomics. 1992 May;13(1):152–158. doi: 10.1016/0888-7543(92)90215-e. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES