Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1990 Nov;27(11):697–700. doi: 10.1136/jmg.27.11.697

Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1.

S Kumar 1, W J Kimberling 1, P A Gabow 1, Y Y Shugart 1, S Pieke-Dahl 1
PMCID: PMC1017261  PMID: 1980516

Abstract

Autosomal dominant polycystic kidney disease is a heritable disorder and recent studies have shown genetic heterogeneity, with some, but not all, families showing linkage with markers on chromosome 16p. Members of a large ADPKD family, unlinked to chromosome 16, have been typed for 12 marker loci located on both arms of chromosome 1. Multipoint analysis excluded ADPKD2 from the region between D1S81 (pTHH33) and D1S67 (pHHH106) on the long arm and between Rh and PGM1 on the short arm. This excludes the disease locus from about 61% of chromosome 1.

Full text

PDF
697

Selected References

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

  1. 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]
  2. Bruns G. A., Sherman S. L. Report of the committee on the genetic constitution of chromosome 1. Cytogenet Cell Genet. 1989;51(1-4):67–90. doi: 10.1159/000132781. [DOI] [PubMed] [Google Scholar]
  3. Donis-Keller H., Green P., Helms C., Cartinhour S., Weiffenbach B., Stephens K., Keith T. P., Bowden D. W., Smith D. R., Lander E. S. A genetic linkage map of the human genome. Cell. 1987 Oct 23;51(2):319–337. doi: 10.1016/0092-8674(87)90158-9. [DOI] [PubMed] [Google Scholar]
  4. Dracopoli N. C., Stanger B. Z., Ito C. Y., Call K. M., Lincoln S. E., Lander E. S., Housman D. E. A genetic linkage map of 27 loci from PND to FY on the short arm of human chromosome I. Am J Hum Genet. 1988 Oct;43(4):462–470. [PMC free article] [PubMed] [Google Scholar]
  5. Farrer L. A., Goodfellow P. J., Lamarche C. M., Franjkovic I., Myers S., White B. N., Holden J. J., Kidd J. R., Simpson N. E., Kidd K. K. An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13. Am J Hum Genet. 1987 Apr;40(4):329–337. [PMC free article] [PubMed] [Google Scholar]
  6. 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]
  7. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [PubMed] [Google Scholar]
  8. Litt M., White R. L. A highly polymorphic locus in human DNA revealed by cosmid-derived probes. Proc Natl Acad Sci U S A. 1985 Sep;82(18):6206–6210. doi: 10.1073/pnas.82.18.6206. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Lowrie E. G., Hampers C. L. The success of medicare's end-stage renal-disease program: the case for profits and the private marketplace. N Engl J Med. 1981 Aug 20;305(8):434–438. doi: 10.1056/NEJM198108203050805. [DOI] [PubMed] [Google Scholar]
  10. O'Connell P., Lathrop G. M., Nakamura Y., Leppert M. L., Ardinger R. H., Murray J. L., Lalouel J. M., White R. Twenty-eight loci form a continuous linkage map of markers for human chromosome 1. Genomics. 1989 Jan;4(1):12–20. doi: 10.1016/0888-7543(89)90308-x. [DOI] [PubMed] [Google Scholar]
  11. Reeders S. T., Breuning M. H., Corney G., Jeremiah S. J., Meera Khan P., Davies K. E., Hopkinson D. A., Pearson P. L., Weatherall D. J. Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) 1986 Mar 29;292(6524):851–853. doi: 10.1136/bmj.292.6524.851. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. 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]
  13. 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]
  14. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  15. Wainwright B., Farrall M., Watson E., Williamson R. A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19. J Med Genet. 1986 Oct;23(5):417–420. doi: 10.1136/jmg.23.5.417. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Watson M. L., Wright A. F., Macnicol A. M., Allan P. L., Clayton J. F., Dempster M., Jeremiah S. J., Corney G., Hopkinson D. A. Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16. J Med Genet. 1987 Aug;24(8):457–461. doi: 10.1136/jmg.24.8.457. [DOI] [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES