{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:49:12Z","timestamp":1791139752494,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2006,11,10]],"date-time":"2006-11-10T00:00:00Z","timestamp":1163116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,12]]},"abstract":"\n Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous and is caused by mutations in the\n PKD1<\/jats:italic>\n or\n PKD2<\/jats:italic>\n genes. ADPKD caused by\n PKD2<\/jats:italic>\n mutations is characterized by a longer survival and a later onset of end\u2010stage renal disease than ADPKD caused by\n PKD1<\/jats:italic>\n mutations.\n PKD2<\/jats:italic>\n encodes a 2.9\u2010kb messenger RNA and is derived from 15 exons. Two\u2010dimensional gene scanning (TDGS) is more efficient in detecting mutations in genes such as\n PKD2<\/jats:italic>\n because it can scan the whole coding regions simultaneously. In order to determine the prevalence of Korean\n PKD2<\/jats:italic>\n patients, all the coding sequences of\n PKD2<\/jats:italic>\n were screened using TDGS and direct sequencing in 46 randomly selected ADPKD patients (group 1). Another 45 ADPKD patients (group 2), who were presumed to be\n PKD2<\/jats:italic>\n patients, were screened in order to identify the type of mutation in the Korean\n PKD2<\/jats:italic>\n patients. Eight novel different mutations and three known mutations in the\n PKD2<\/jats:italic>\n gene were detected in 17 patients: 6 patients (13.0%) in group 1 and 11 patients (24.4%) in group 2. Considering the sensitivity of TDGS, the prevalence of\n PKD2<\/jats:italic>\n in Korean population might be greater than 18.6%. Both known and novel mutations were identified by TDGS in Korean\n PKD2<\/jats:italic>\n patients. Overall, these results showed that TDGS might be useful for diagnosing\n PKD2<\/jats:italic>\n .\n <\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00721.x","type":"journal-article","created":{"date-parts":[[2006,11,10]],"date-time":"2006-11-10T08:47:00Z","timestamp":1163148420000},"page":"502-508","source":"Crossref","is-referenced-by-count":12,"title":["PKD2<\/i>\n gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two\u2010dimensional gene scanning"],"prefix":"10.1111","volume":"70","author":[{"given":"W","family":"Chung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YH","family":"Hwang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SY","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A\u2010r","family":"Ko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Ro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KB","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JS","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u2010H","family":"Oh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Ahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,11,10]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199307293290508"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-6386(12)80051-5"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5266.1339"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(95)80020-M"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199010183231601"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1992.195"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V661634"},{"key":"e_1_2_6_9_2","doi-asserted-by":"crossref","first-page":"2142","DOI":"10.1681\/ASN.V7102142","article-title":"Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2","volume":"7","author":"Torra R","year":"1996","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)03495-3"},{"key":"e_1_2_6_11_2","first-page":"649","article-title":"Genotype analysis in Korean families with autosomal dominant polycystic kidney disease (ADPKD)","volume":"19","author":"Lee JG","year":"2000","journal-title":"J Korean Soc Nephrol"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)92026-5"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.213.1.r99oc05273"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/nbt0597-422"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1522-2683(19990101)20:6<1239::AID-ELPS1239>3.0.CO;2-T"},{"key":"e_1_2_6_16_2","first-page":"298","article-title":"A fast method for 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