{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:32:52Z","timestamp":1760747572516,"version":"build-2065373602"},"reference-count":28,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,9]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.29.9.638","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"638-641","source":"Crossref","is-referenced-by-count":7,"title":["Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16."],"prefix":"10.1136","volume":"29","author":[{"given":"P M","family":"Pignatelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S E","family":"Pound","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A D","family":"Carothers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Macnicol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P L","family":"Allan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M L","family":"Watson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A F","family":"Wright","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,9,1]]},"reference":[{"key":"ref_1","first-page":"129","article-title":"Polycystic kidney disease and chronic hemodialysis","volume":"10","author":"Chester, A.C.; WP, Jr, Argy; Rakowski, T.A.; Schreiner, G.E.","year":"1978","unstructured":"Chester AC, Argy WP Jr, Rakowski TA, Schreiner GE. Polycystic kidney disease and chronic hemodialysis. Clin Nephrol 1978;10:129-33.","journal-title":"Clin Nephrol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/S0022-5347(17)58169-0","article-title":"Adult polycystic kidney disease: a review of 100 cases","volume":"118","author":"Segal, A.J.; Spataro, R.F.; Barbaric, J.","year":"1977","unstructured":"Segal AJ, Spataro RF, Barbaric J. Adult polycystic kidney disease: a review of 100 cases. Urol 1977;118:711-13.","journal-title":"Urol"},{"key":"ref_3","first-page":"328","article-title":"Polycystic disease of the kidneys: a follow-up study of 284 patients and their families","volume":"158","author":"Dalgaard, O.Z.","year":"1957","unstructured":"Dalgaard OZ. Polycystic disease of the kidneys: a follow-up study of 284 patients and their families. Acta Med Scand (Suppl) 1957;158:328.","journal-title":"Acta Med Scand (Suppl)"},{"key":"ref_4","first-page":"1002","article-title":"Cystic diseases of the kidney","volume-title":"Principles and practice of medical genetics. Volume I","author":"Friedman, J.","year":"1983","unstructured":"Friedman J. Cystic diseases of the kidney. In: Emery AEH, Rimoin DL, eds. Principles and practice of medical genetics. Volume I. Edinburgh: Churchill Livingstone, 1983:1002-10."},{"key":"ref_5","first-page":"420","article-title":"Cellular and molecular mechanisms of cyst formation in human autosomal dominant polycystic kidney disease","volume":"260","author":"Wilson, P.D.; Sherwood, A.C.; Palla, K.; Du, J.; Watson, R.; Norman, J.T.","year":"1991","unstructured":"Wilson PD, Sherwood AC, Palla K, Du J, Watson R, Norman JT. Cellular and molecular mechanisms of cyst formation in human autosomal dominant polycystic kidney disease. Am Physiol 1991;260:F420-30.","journal-title":"Am Physiol"},{"key":"ref_6","first-page":"5424","article-title":"A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16","volume":"317","author":"Reeders, S.T.; Breuning, M.H.; Davies, K.E.","year":"1985","unstructured":"Reeders ST, Breuning MH, Davies KE, et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 1985;317:5424.","journal-title":"Nature"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1136\/jmg.24.8.457","article-title":"Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16","volume":"24","author":"Watson, M.L.; Wright, A.F.; Macnicol, A.M.","year":"1987","unstructured":"Watson ML, Wright AF, Macnicol AM, et al. Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16. Med Genet 1987;24:457-6 1.","journal-title":"Med Genet"},{"key":"ref_8","first-page":"466","article-title":"Adult polycystic kidney disease and linked RFLPs at the a globin locus: a genetic study in the South Wales population Med","volume":"24","author":"Lazarou, L.P.; Davies, F.; Sarfarazi, M.; Coles, G.A.; Harper, P.S.","year":"1987","unstructured":"Lazarou LP, Davies F, Sarfarazi M, Coles GA, Harper PS. Adult polycystic kidney disease and linked RFLPs at the a globin locus: a genetic study in the South Wales population Med Genet 1987;24:466-73.","journal-title":"Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1016\/S0140-6736(87)91256-6","article-title":"Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers","volume":"ii:","author":"Breuning, M.H.; Reeders, S.T.; Brunner, H.","year":"1987","unstructured":"Breuning MH, Reeders ST, Brunner H, et al. Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet 1987;ii:1359-61.","journal-title":"Lancet"},{"key":"ref_10","first-page":"287","article-title":"Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP","volume":"76","author":"Breuning, M.H.; Madan, K.; Verjaal, M.; Wijnen, J.T.; Khan, M.; Pearson, P.","year":"1987","unstructured":"Breuning MH, Madan K, Verjaal M, Wijnen JT, Khan M, Pearson P. Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP. Hum Genet 1987;76:287-9.","journal-title":"Hum Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/0888-7543(88)90146-2","article-title":"Regional localization of the autosomal dominant polycystic kidney disease locus","volume":"3","author":"Reeders, S.T.; Keith, T.; Green, P.","year":"1988","unstructured":"Reeders ST, Keith T, Green P, et al. Regional localization of the autosomal dominant polycystic kidney disease locus. Genomics 1988;3:150-5.","journal-title":"Genomics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1007\/BF00272443","article-title":"A study of genetic linkage heterogeneity in adult polycystic kidney disease","volume":"76","author":"Reeders, S.T.; Breuning, M.H.; Ryynanen, M.A.","year":"1987","unstructured":"Reeders ST, Breuning MH, Ryynanen MA. A study of genetic linkage heterogeneity in adult polycystic kidney disease. Hum Genet 1987;76:348-51.","journal-title":"Hum Genet"},{"key":"ref_13","first-page":"7","article-title":"A second genetic locus for autosomal dominant polycystic kidney disease","volume":"ii:","author":"Romeo, G.; Costa, G.; Catizone, L.","year":"1988","unstructured":"Romeo G, Costa G, Catizone L, et al. A second genetic locus for autosomal dominant polycystic kidney disease. Lancet 1988;ii:7-10.","journal-title":"Lancet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1056\/NEJM198810063191405","article-title":"Linkage heterogeneity of autosomal dominant polycystic kidney disease","volume":"319","author":"Kimberling, W.J.; Fain, P.R.; Kenyon, J.B.; Goldgar, D.; Sujansky, E.; Gabow, P.A.","year":"1988","unstructured":"Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Sujansky E, Gabow PA. Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl Jf Med 1988;319:913-18.","journal-title":"N Engl Jf Med"},{"article-title":"A study of genetic linkage heterogeneity in 34 adult-onset polycystic kidney disease families","author":"Wright, A.F.; Carothers, A.D.; Pignatelli, P.M.","key":"ref_15","unstructured":"Wright AF, Carothers AD, Pignatelli PM, et al. A study of genetic linkage heterogeneity in 34 adult-onset polycystic kidney disease families. Hum Genet (in press)."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1093\/nar\/10.5.1557","article-title":"Regional localization on the human X of DNA segments cloned from flow sorted chromosomes","volume":"10","author":"Kunkel, L.M.; Tantravahi, U.; Eisenhard, M.; Latt, S.A.","year":"1982","unstructured":"Kunkel LM, Tantravahi U, Eisenhard M, Latt SA. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res 1982;10: 1557-8.","journal-title":"Nucleic Acids Res"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1002\/j.1460-2075.1986.tb04437.x","article-title":"Molecular characterization of a hypervariable region downstream of the alpha-globin gene cluster","volume":"5","year":"1986","unstructured":"Jarman AP, Nicholls RD, Weatherall DJ, Clegg JB, Higgs DR. Molecular characterization of a hypervariable region downstream of the alpha-globin gene cluster. EMBO J 1986;5:1857-63.","journal-title":"EMBO J"},{"issue":"16","key":"ref_18","doi-asserted-by":"crossref","first-page":"3122","DOI":"10.1093\/nar\/16.7.3122","article-title":"Isolation and mapping of a polymorphic DNA sequence (pCMM65) on chromosome","volume":"16","author":"Nakamura, Y.; Martin, C.; Krapcho, K.","year":"1988","unstructured":"Nakamura Y, Martin C, Krapcho K, et al. Isolation and mapping of a polymorphic DNA sequence (pCMM65) on chromosome 16 (D16S84). Nucleic Acids Res 1988; 16:3122.","journal-title":"Nucleic Acids Res"},{"key":"ref_19","first-page":"286","article-title":"Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1","volume":"84","author":"Hyland, V.J.; Suthers, G.K.; Friend, K.","year":"1990","unstructured":"Hyland VJ, Suthers GK, Friend K, et al. Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1. Hum Genet 1990;84:286-8.","journal-title":"Hum Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/0092-8674(87)90158-9","article-title":"A genetic linkage map of the human genome","volume":"51","author":"Donis-Keller, H.; Green, P.; Helms, P.","year":"1987","unstructured":"Donis-Keller H, Green P, Helms P, et al. A genetic linkage map of the human genome. Cell 1987;51:319-37.","journal-title":"Cell"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/0003-2697(83)90418-9","article-title":"A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity","volume":"132","author":"Feinberg, A.P.; Vogelstein, B.","year":"1983","unstructured":"Feinberg AP, Vogelstein B. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983;132:6-13.","journal-title":"Anal Biochem"},{"issue":"13","key":"ref_22","first-page":"237","article-title":"Detection of specific sequences among DNA fragments separated by gel electrophoresis","volume":"1","author":"Southern, E.M.","year":"1975","unstructured":"Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975;1 13:237-51.","journal-title":"J Mol Biol"},{"key":"ref_23","first-page":"3443","article-title":"Strategies for multilocus linkage","volume-title":"analysis in humans. Proc Natl Acad Sci USA","volume":"81","author":"JM, Lathrop G.M.Lalouel; C, Julier; J, Ott","year":"1984","unstructured":"Lathrop GM. Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-6."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.1320180108","article-title":"Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease - data for genetic counseling","volume":"18","author":"Bear, J.C.; McManamon, P.; Morgan, J.","year":"1984","unstructured":"Bear JC, McManamon P, Morgan J, et al. Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease - data for genetic counseling. Am J Med Genet 1984;18:45-53.","journal-title":"Am J Med Genet"},{"key":"ref_25","first-page":"925","article-title":"Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16","volume":"46","author":"Germino, G.G.; Barton, N.J.; Lamb, J.","year":"1990","unstructured":"Germino GG, Barton NJ, Lamb J, et al. 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;46:925-33.","journal-title":"Am J Hum Genet"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1136\/jmg.27.10.603","article-title":"Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene","volume":"27","author":"Breuning, M.H.; Snijdewint, F.G.M.; Brunner, H.","year":"1990","unstructured":"Breuning MH, Snijdewint FGM, Brunner H, et al. Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD 1). J Med Genet 1990;27:603-13.","journal-title":"J Med Genet"},{"key":"ref_27","article-title":"The search for the PKDI gene on chromosome 16. Paper delivered","volume-title":"EEC Concerted Action Workshop on Polycystic Kidney Disease, Paris","author":"Reeders, S.T.","year":"1990","unstructured":"Reeders ST. The search for the PKDI gene on chromosome 16. Paper delivered at EEC Concerted Action Workshop on Polycystic Kidney Disease, Paris, 8 June 1990."},{"key":"ref_28","first-page":"4289","article-title":"CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a","volume-title":"putative protein channel. Proc Natl Acad Sci","volume":"88","author":"Gillespie, G.A.J.; Somlo, S.; Germino, G.G.; Weinstat-Saslow, D.; Reeders, S.T.","year":"1991","unstructured":"Gillespie GAJ, Somlo S, Germino GG, Weinstat-Saslow D, Reeders ST. CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative protein channel. Proc Natl Acad Sci USA 1991;88:4289-93."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.9.638","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:00:45Z","timestamp":1760727645000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.9.638"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9]]},"references-count":28,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1992,9,1]]},"published-print":{"date-parts":[[1992,9]]}},"alternative-id":["10.1136\/jmg.29.9.638"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.9.638","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1992,9]]}}}