Browse

PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning

DC Field Value Language
dc.contributor.authorChung, W.-
dc.contributor.authorKim, H.-
dc.contributor.authorHwang, Y. H.-
dc.contributor.authorKim, S. Y.-
dc.contributor.authorKo, A. R.-
dc.contributor.authorRo, H.-
dc.contributor.authorLee, K. B.-
dc.contributor.authorLee, J. S.-
dc.contributor.authorOh, K. H.-
dc.contributor.authorAhn, C.-
dc.date.accessioned2009-12-24T10:58:35Z-
dc.date.available2009-12-24T10:58:35Z-
dc.date.issued2006-10-15-
dc.identifier.citationClin Genet. 2006 Dec;70(6):502-8.en
dc.identifier.issn0009-9163 (Print)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17100995-
dc.identifier.urihttps://hdl.handle.net/10371/22593-
dc.description.abstractAutosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous and is caused by mutations in the PKD1 or PKD2 genes. ADPKD caused by PKD2 mutations is characterized by a longer survival and a later onset of end-stage renal disease than ADPKD caused by PKD1 mutations. PKD2 encodes a 2.9-kb messenger RNA and is derived from 15 exons. Two-dimensional gene scanning (TDGS) is more efficient in detecting mutations in genes such as PKD2 because it can scan the whole coding regions simultaneously. In order to determine the prevalence of Korean PKD2 patients, all the coding sequences of PKD2 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 PKD2 patients, were screened in order to identify the type of mutation in the Korean PKD2 patients. Eight novel different mutations and three known mutations in the PKD2 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 PKD2 in Korean population might be greater than 18.6%. Both known and novel mutations were identified by TDGS in Korean PKD2 patients. Overall, these results showed that TDGS might be useful for diagnosing PKD2.en
dc.language.isoen-
dc.publisherWiley-Blackwellen
dc.subjectChromosome Mappingen
dc.subjectDNA Mutational Analysis/statistics & numerical dataen
dc.subjectDNA Primersen
dc.subjectElectrophoresisen
dc.subjectFemaleen
dc.subjectGenetic Screening/*methodsen
dc.subjectHumansen
dc.subjectKorea/epidemiologyen
dc.subjectMaleen
dc.subjectPedigreeen
dc.subjectPolycystic Kidney, Autosomal Dominant/*epidemiology/*geneticsen
dc.subjectPrevalenceen
dc.subjectSensitivity and Specificityen
dc.subjectTRPP Cation Channels-
dc.titlePKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanningen
dc.typeArticleen
dc.identifier.doi10.1111/j.1399-0004.2006.00721.x-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Immunology (면역학전공)Journal Papers (저널논문_면역학전공)
Files in This Item:
There are no files associated with this item.
  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse