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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Sep;29(9):638–641. doi: 10.1136/jmg.29.9.638

Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16.

P M Pignatelli 1, S E Pound 1, A D Carothers 1, A M Macnicol 1, P L Allan 1, M L Watson 1, A F Wright 1
PMCID: PMC1016095  PMID: 1404294

Abstract

Analysis of genetic linkage data in 33 adult onset polycystic kidney (ADPKD) families was carried out using probes for the D16S85, D16S84, and D16S94 loci. The data set of 33 families shows no evidence of genetic heterogeneity since one unlinked family was previously excluded. Two point linkage analysis showed maximum likelihood values of the recombination fraction of 0.07 for ADPKD and D16S85 (lod score 18.78), 0.02 for ADPKD and D16S84 (lod score 7.55), and 0.00 for ADPKD and D16S94 (lod score 6.73). Multipoint analysis showed a maximum likelihood order of tel-D16S85-0.06-D16S84-0.02-(PKD1, D16S94)-cen with a multipoint lod score of 32.16. Analysis of rare recombinants lying close to PKD1 gave results consistent with this order.

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Selected References

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  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. Breuning M. H., Madan K., Verjaal M., Wijnen J. T., Meera Khan P., Pearson P. L. Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP. Hum Genet. 1987 Jul;76(3):287–289. doi: 10.1007/BF00283625. [DOI] [PubMed] [Google Scholar]
  3. Breuning M. H., Reeders S. T., Brunner H., Ijdo J. W., Saris J. J., Verwest A., van Ommen G. J., Pearson P. L. Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet. 1987 Dec 12;2(8572):1359–1361. doi: 10.1016/s0140-6736(87)91256-6. [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. Chester A. C., Argy W. P., Jr, Rakowski T. A., Schreiner G. E. Polycystic kidney disease and chronic hemodialysis. Clin Nephrol. 1978 Oct;10(4):129–133. [PubMed] [Google Scholar]
  6. 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]
  7. 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]
  8. 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]
  9. Gillespie G. A., Somlo S., Germino G. G., Weinstat-Saslow D., Reeders S. T. CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel. Proc Natl Acad Sci U S A. 1991 May 15;88(10):4289–4293. doi: 10.1073/pnas.88.10.4289. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Hyland V. J., Suthers G. K., Friend K., MacKinnon R. N., Callen D. F., Breuning M. H., Keith T., Brown V. A., Phipps P., Sutherland G. R. Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1. Hum Genet. 1990 Feb;84(3):286–288. doi: 10.1007/BF00200577. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. 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]
  13. Kunkel L. M., Tantravahi U., Eisenhard M., Latt S. A. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res. 1982 Mar 11;10(5):1557–1578. doi: 10.1093/nar/10.5.1557. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Lazarou L. P., Davies F., Sarfarazi M., Coles G. A., Harper P. S. Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population. J Med Genet. 1987 Aug;24(8):466–473. doi: 10.1136/jmg.24.8.466. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Nakamura Y., Martin C., Krapcho K., O'Connell P., Leppert M., Lathrop G. M., Lalouel J. M., White R. Isolation and mapping of a polymorphic DNA sequence (pCMM65) on chromosome 16 [D16S84]. Nucleic Acids Res. 1988 Apr 11;16(7):3122–3122. doi: 10.1093/nar/16.7.3122. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. 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]
  18. Reeders S. T., Breuning M. H., Ryynanen M. A., Wright A. F., Davies K. E., King A. W., Watson M. L., Weatherall D. J. A study of genetic linkage heterogeneity in adult polycystic kidney disease. Hum Genet. 1987 Aug;76(4):348–351. doi: 10.1007/BF00272443. [DOI] [PubMed] [Google Scholar]
  19. Reeders S. T., Keith T., Green P., Germino G. G., Barton N. J., Lehmann O. J., Brown V. A., Phipps P., Morgan J., Bear J. C. Regional localization of the autosomal dominant polycystic kidney disease locus. Genomics. 1988 Aug;3(2):150–155. doi: 10.1016/0888-7543(88)90146-2. [DOI] [PubMed] [Google Scholar]
  20. Segal A. J., Spataro R. F., Barbaric Z. L. Adult polycystic kidney disease: a review of 100 cases. J Urol. 1977 Nov;118(5):711–713. doi: 10.1016/s0022-5347(17)58169-0. [DOI] [PubMed] [Google Scholar]
  21. 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]
  22. Wilson P. D., Sherwood A. C., Palla K., Du J., Watson R., Norman J. T. Reversed polarity of Na(+) -K(+) -ATPase: mislocation to apical plasma membranes in polycystic kidney disease epithelia. Am J Physiol. 1991 Mar;260(3 Pt 2):F420–F430. doi: 10.1152/ajprenal.1991.260.3.F420. [DOI] [PubMed] [Google Scholar]

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