{"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":1791139752509,"version":"4.1.0"},"reference-count":27,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2005,3,18]],"date-time":"2005-03-18T00:00:00Z","timestamp":1111104000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,3,18]],"date-time":"2005-03-18T00:00:00Z","timestamp":1111104000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron Exp Nephrol"],"abstract":"Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in two genes, <i>PKD1<\/i> and <i>PKD2<\/i>. The complexity of these genes, particularly <i>PKD1<\/i>, has complicated genetic screening, though recent advances have provided new opportunities for amplifying these genes. In the Han Chinese population, no complete mutational analysis has previously been conducted across the entire span of <i>PKD1<\/i> and <i>PKD2<\/i>. Here, we used single-strand conformation polymorphism (SSCP) analysis to screen the entire coding sequence of <i>PKD1<\/i> and <i>PKD2<\/i> in 85 healthy controls and 72 Han Chinese from 24 ADPKD pedigrees. In addition to 11 normal variants, we identified 17 mutations (12 in <i>PKD1<\/i> and 5 in <i>PKD2<\/i>), 15 of which were novel ones (11 for <i>PKD1<\/i> and 4 for <i>PKD2<\/i>). We did not identify any seeming mutational hot spots in <i>PKD1<\/i> and <i>PKD2<\/i>. Notably, we found several disease-associated C\u2013T or G\u2013A mutations that led to charge or hydrophobicity changes in the corresponding amino acids. This suggests that the mutations cause conformational alterations in the <i>PKD1<\/i> and <i>PKD2<\/i> protein products that may impact the normal protein functions. Our study is the first report of screenable mutations in the full-length <i>PKD1<\/i> and <i>PKD2<\/i> genes of the Han Chinese, and also offers a benchmark for comparisons between Caucasian and Han ADPKD pedigrees and patients.<\/jats:p>","DOI":"10.1159\/000084572","type":"journal-article","created":{"date-parts":[[2005,3,18]],"date-time":"2005-03-18T13:06:18Z","timestamp":1111151178000},"page":"e63-e76","source":"Crossref","is-referenced-by-count":22,"title":["Mutation Analysis of Autosomal Dominant Polycystic Kidney Disease Genes in Han Chinese"],"prefix":"10.1159","volume":"100","author":[{"given":"Shuzhong","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changlin","family":"Mei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianyong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianmei","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haidan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukun","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumei","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefei","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2005,3,18]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2894%2990137-6"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.272.5266.1339"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1146%2Fannurev.med.52.1.93"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.2000.00302.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.2000.00989.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.1999.00534.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1086%2F316939"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1086%2F302657"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1086%2F302460"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093%2Fndt%2F17.1.75"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1097%2F00041552-200007000-00010"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F9.3.447"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.2000.00027.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1097%2F00041552-200205000-00007"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1999.5927"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.1999.00368.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.2002.00326.x"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2894%2992026-5"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1086%2F515467"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F4.8.1331"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.1145"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F4.4.569"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1097%2F00041552-200101000-00005"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2F27.13.2610"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1093%2Femboj%2F18.2.297"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.1999.00541.x"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1097%2F01.ASN.0000028643.17901.42"}],"container-title":["Nephron Experimental Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/84572","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/84572","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:43:22Z","timestamp":1745466202000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000084572"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,18]]},"references-count":27,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2005,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000084572","archive":["Portico"],"relation":{},"ISSN":["1660-2129"],"issn-type":[{"value":"1660-2129","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,18]]}}}