{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:57:47Z","timestamp":1761101867234,"version":"build-2065373602"},"reference-count":26,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,2]]},"abstract":"<jats:p>Diagnosis of autosomal dominant adult polycystic kidney disease (APKD) is possible by ultrasonographic scanning (USS) or by using DNA markers linked to the PKD1 locus. Ultrasonography is complicated by the age dependent penetrance of the gene and linkage studies are subject to recombination errors owing to meiotic crossing over and locus heterogeneity. This study draws on data collected from a voluntary family register of APKD over 10 years. Records of 150 families were examined, ultrasound reports were obtained from 242 people at 50% prior risk, and 37 families were typed for DNA markers. The fraction of APKD resulting from loci unlinked to PKD1 (designated PKD2 here) was calculated at 2.94% (upper confidence limit 8.62%). Some subjects who were negative on initial scan later gave a positive scan, but there was no example of a definite gene carrier aged over 30 giving a negative scan. In families large enough for linkage analysis, most people who were at 50% prior risk could be given a final risk below 5% or above 95%, by using combined ultrasound and DNA studies.<\/jats:p>","DOI":"10.1136\/jmg.31.2.115","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"115-120","source":"Crossref","is-referenced-by-count":15,"title":["Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register."],"prefix":"10.1136","volume":"31","author":[{"given":"R G","family":"Elles","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K A","family":"Hodgkinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N P","family":"Mallick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"O'Donoghue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A P","family":"Read","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Rimmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E 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":[[1994,2,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Bilateral polycystic disease of the kidneys","volume":"158","author":"Dalgaard, O.Z.","year":"1957","unstructured":"Dalgaard OZ. Bilateral polycystic disease of the kidneys. Acta Med Scand (Suppl) 1957;158:1-251.","journal-title":"Acta Med Scand (Suppl)"},{"key":"ref_2","first-page":"477","article-title":"Polycystic kidney disease re-evaluated: a population\/based study","volume":"79","author":"Davies, F.; Coles, G.A.; Harper, P.S.; Williams, A.J.; Evans, C.; Cochlin, D.","year":"1991","unstructured":"Davies F, Coles GA, Harper PS, Williams AJ, Evans C, Cochlin D. Polycystic kidney disease re-evaluated: a population\/based study. Q J Med 1991;79:477-85.","journal-title":"Q J Med"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1038\/ki.1984.154","article-title":"Prognosis of adult polycystic kidney disease re-evaluated","volume":"26","author":"Churchill, D.N.; Bear, J.C.; Morgan, J.; Payne, R.H.; McManamon, P.J.; Gault, H.","year":"1984","unstructured":"Churchill DN, Bear JC, Morgan J, Payne RH, McManamon PJ, Gault H. Prognosis of adult polycystic kidney disease re-evaluated. Kidney Int 1984;26:190-3.","journal-title":"Kidney Int"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1136\/jmg.27.9.552","article-title":"Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis","volume":"27","author":"Hodgkinson, K.A.; Kerzin-Storrar, L.; Watters, E.A.; Harris, R.","year":"1990","unstructured":"Hodgkinson KA, Kerzin-Storrar L, Watters EA, Harris R. Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis. J Med Genet 1990;27:552-8.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/0140-6736(91)90797-S","article-title":"Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease","volume":"337","author":"Ravine, D.; Walker, R.G.; Gibson, R.N.; Sheffield, L.J.; KincaidSmith, P.; Danks, D.","year":"1991","unstructured":"Ravine D, Walker RG, Gibson RN, Sheffield LJ, KincaidSmith P, Danks D. Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease. Lancet 1991;337:127-9.","journal-title":"Lancet"},{"key":"ref_6","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","volume":"18","author":"Bear, J.C.; McManamom, P.; Morgan, J.","year":"1984","unstructured":"Bear JC, McManamom P, Morgan J, et al. Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease. Am J Med Genet 1984;18:45-53.","journal-title":"Am J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/ajmg.1320430309","article-title":"Autosomal dominant polycystic kidney disease: new information for genetic counselling","volume":"43","author":"Bear, J.C.; Parfrey, P.S.; Morgan, J.M.; Martin, C.J.; Cramer, B.C.","year":"1992","unstructured":"Bear JC, Parfrey PS, Morgan JM, Martin CJ, Cramer BC. Autosomal dominant polycystic kidney disease: new information for genetic counselling. Am J Med Genet 1992;43:548-53.","journal-title":"Am J Med Genet"},{"key":"ref_8","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_9","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1136\/jmg.27.10.614","article-title":"Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene","volume":"27","author":"Breuning, M.H.; Snijdewint, F.G.M.; Dauwerse, J.G.","year":"1990","unstructured":"Breuning MH, Snijdewint FGM, Dauwerse JG, et al. Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene. J Med Genet 1990;27:614-17.","journal-title":"J Med Genet"},{"key":"ref_10","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.; 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:8-10.","journal-title":"Lancet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1056\/NEJM198810063191405","article-title":"Linkage heterogeneity of autosomal 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 polycystic kidney disease. N Engl J Med 1988;319:913-7.","journal-title":"N Engl J Med"},{"key":"ref_12","first-page":"58","article-title":"Genetic heterogeneity of polycystic kidney disease: an estimate of the proportion of families unlinked to chromosome 16","volume":"45","author":"Pieke, S.A.; Kimberling, W.J.; Kenyon, J.B.; Gabow, P.","year":"1989","unstructured":"Pieke SA, Kimberling WJ, Kenyon JB, Gabow P. Genetic heterogeneity of polycystic kidney disease: an estimate of the proportion of families unlinked to chromosome 16. Am Jf Hum Genet 1989;45:A58.","journal-title":"Am Jf Hum Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1056\/NEJM199010183231601","article-title":"The diagnosis and prognosis of autosomal dominant polycystic kidney disease","volume":"323","author":"Parfrey, P.S.; Bear, J.C.; Morgan, J.","year":"1990","unstructured":"Parfrey PS, Bear JC, Morgan J, et al. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N EngltJ Med 1990;323:1085-90.","journal-title":"N EngltJ Med"},{"key":"ref_14","first-page":"128","article-title":"Genetic heterogeneity of polycystic kidney disease in Europe","volume-title":"to nephrology","author":"Peters, D.J.; Sandkuijl, L.A.","year":"1992","unstructured":"Peters DJ, Sandkuijl LA. Genetic heterogeneity of polycystic kidney disease in Europe. In: Breuning MH, Devoto M, Romeo G, eds. Contributions to nephrology. Basel: Karger, 1992:128-39."},{"key":"ref_15","first-page":"513","article-title":"Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction","volume":"12","author":"Turco, A.; Peissel, B.; Quaia, P.; Morandi, R.; Bovicelli, L.; Pignati, P.F.","year":"1991","unstructured":"Turco A, Peissel B, Quaia P, Morandi R, Bovicelli L, Pignati PF. Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction. Prenat Diagn 1991;12:513-24."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1002\/j.1460-2075.1986.tb04437.x","article-title":"Molecular characterisation of a hypervariable region downstream of the human alpha globin gene cluster","volume":"5","year":"1986","unstructured":"Jarman AP, Nichols RD, Weatherall DJ, Clegg JR, Higgs DR. Molecular characterisation of a hypervariable region downstream of the human alpha globin gene cluster. EMBO J 1986;5:1857-63.","journal-title":"EMBO J"},{"key":"ref_17","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_18","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/0888-7543(90)90541-2","article-title":"A long range restriction map between the alpha globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus","volume":"7","author":"Harris, P.C.; Barton, N.J.; Higgs, D.R.; Reeders, S.T.; Wilkie, A.O.","year":"1990","unstructured":"Harris PC, Barton NJ, Higgs DR, Reeders ST, Wilkie AO. 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;7:195-206.","journal-title":"Genomics"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1016\/0140-6736(91)92300-Q","article-title":"Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker","volume":"338","author":"Harris, P.C.; Thomas, S.; Ratcliffe, P.J.; Breuning, M.H.; Coto, E.; Lopez-Larrea, C.","year":"1991","unstructured":"Harris PC, Thomas S, Ratcliffe PJ, Breuning MH, Coto E, Lopez-Larrea C. Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 1991;338:1484-7.","journal-title":"Lancet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/0888-7543(92)90260-Y","article-title":"Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16","volume":"13","author":"Thompson, A.D.; Shen, Y.; Holman, K.","year":"1992","unstructured":"Thompson AD, Shen Y, Holman K, et al. Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16. Genomics 1992;13:402-8.","journal-title":"Genomics"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"3106","DOI":"10.1093\/nar\/18.10.3106-a","article-title":"A Taql polymorphism identified by 26-6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16","volume":"18","author":"Breuning, M.H.; Snijdewint, F.G.; Smits, JR, Dauwerse; JG, Saris; JJ, van Ommen; G.J.","year":"1990","unstructured":"Breuning MH, Snijdewint FG, Smits JR, Dauwerse JG, Saris JJ, van Ommen GJ. A Taql polymorphism identified by 26-6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16. Nucleic Acids Res 1990;18:3106.","journal-title":"Nucleic Acids Res"},{"key":"ref_22","first-page":"286","article-title":"Probe VK5B is located in the same interval as the autosomal dominant adult polycystic kidney disease locus PKD1","volume":"3","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;3:286.","journal-title":"Hum Genet"},{"key":"ref_23","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_24","first-page":"460","article-title":"Easy calculations 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 calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-5.","journal-title":"Am J Hum Genet"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/BF00217461","article-title":"A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families","volume":"90","author":"Wright, A.F.; Teague, P.W.; Pound, S.E.","year":"1993","unstructured":"Wright AF, Teague PW, Pound SE, et al. A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families. Hum Genet 1993;90:569-71.","journal-title":"Hum Genet"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/0888-7543(88)90146-2","article-title":"Regional localisation 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 localisation of the autosomal dominant polycystic kidney disease locus. Genomics 1988;3:150-5.","journal-title":"Genomics"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.2.115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:15:49Z","timestamp":1760721349000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.2.115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2]]},"references-count":26,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1994,2,1]]},"published-print":{"date-parts":[[1994,2]]}},"alternative-id":["10.1136\/jmg.31.2.115"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.2.115","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,2]]}}}