{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:37:25Z","timestamp":1760747845810,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,7]]},"abstract":"<jats:p>Twenty-four families with adult onset polycystic kidney disease were typed for markers flanking the PKD1 locus on chromosome 16. The aggregated results gave a significant lod score in favour of linkage to PKD1. Within this group of families two showed unusual features: recombinations, including double recombinations, and, in one family, an unexpectedly high proportion of affected people. We consider the evidence that in these families the disease might result from a mutation at a different locus, PKD2, not linked to PKD1. We suggest that a useful test is to compare the relative numbers of meioses apparently non-recombinant and doubly recombinant for markers flanking the normal disease locus, ignoring meioses recombinant for only a single marker. Using this test, neither our two families nor the data published so far on other families provide compelling evidence for the existence of a second locus for adult polycystic kidney disease. For genetic counselling in families too small to give internal evidence for or against linkage, the extra uncertainty can be handled by using a higher recombination rate.<\/jats:p>","DOI":"10.1136\/jmg.27.7.413","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"413-417","source":"Crossref","is-referenced-by-count":3,"title":["Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease?"],"prefix":"10.1136","volume":"27","author":[{"given":"R G","family":"Elles","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A P","family":"Read","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K A","family":"Hodgkinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Watters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/S0140-6736(88)92943-1","article-title":"A second genetic locus for autosomal dominant polycystic kidney disease","volume":"ii:","author":"Romeo, G.; Devoto, M.; Costa, G.","year":"1988","unstructured":"Romeo G, Devoto M, Costa G, et al. A second genetic locus for autosomal dominant polycystic kidney disease. Lancet 1988;ii: 8-11.","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1056\/NEJM198810063191405","article-title":"Linkage heterogeneity of autosomal dominant polycystic kidney disease","volume":"319","year":"1988","unstructured":"Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Suiansky E, Gabow MD. Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl Med 1988;319:913-7.","journal-title":"N Engl Med"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1038\/317542a0","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. 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(Genomics 1988;3: 150-5."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1136\/jmg.24.8.466","article-title":"Adult polycystic kidney disease and linked RFLPs at the (t globin locus: a genetic study in the South Wales population","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 (t globin locus: a genetic study in the South Wales population. 7 Med Genet 1987;24:466-73.","journal-title":"7 Med Genet"},{"key":"ref_7","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 diseasedata for genetic counselling","volume":"18","author":"Bear, J.C.; McManamon, P.; Morgan, J.","year":"1984","unstructured":"Bear JC, McManamon P, Morgan J. Age at clinical onset and at ultrasonographic detection of adult polycystic kidney diseasedata for genetic counselling. Am 7 Med Genet 1984;18:45-53.","journal-title":"Am 7 Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1007\/BF00702859","article-title":"Patterns of exon deletions in Duchenne and Becker muscular dystrophy","volume":"80","author":"Read, A.P.; Mountford, R.C.; Forrest, S.M.; Kenwrick, S.J.; Davies, K.E.; Harris, R.","year":"1988","unstructured":"Read AP, Mountford RC, Forrest SM, Kenwrick SJ, Davies KE, Harris R. Patterns of exon deletions in Duchenne and Becker muscular dystrophy. Hum Genet 1988;80: 152-6.","journal-title":"Hum Genet"},{"key":"ref_9","first-page":"1857","article-title":"Molecular characterisation of a hypervariable region downstream of the human (t globin gene cluster","volume":"5","year":"1986","unstructured":"Jarman AP, Nichols RD, Weatherall DJ, Clegg JB, Higgs DR. Molecular characterisation of a hypervariable region downstream of the human (t globin gene cluster. EMBOJ7 1986;5: 1857-63."},{"key":"ref_10","first-page":"460","article-title":"Easy calculation of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop, G.M.; Lalouel, J.M.","year":"1984","unstructured":"Lathrop GM, Lalouel JM. Easy calculation of lod scores and genetic risks on small computers. Am J7 Hum Genet 1984;36: 460-5.","journal-title":"Am J7 Hum Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0140-6736(88)90438-2","article-title":"Linkage heterogeneity in autosomal dominant polycystic kidney disease","volume":"ii:","author":"Hulten, M.","year":"1988","unstructured":"Hulten M. Linkage heterogeneity in autosomal dominant polycystic kidney disease. 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