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

Cited 9 time in Web of Science Cited 10 time in Scopus
Authors
Chung, W; Kim, H; Hwang, Y H; Kim, S Y; Ko, A-R; Ro, H; Lee, K B; Lee, J S; Oh, K-H; Ahn, C
Issue Date
2006-11-15
Publisher
Wiley-Blackwell
Citation
Clin Genet. 2006 Dec;70(6):502-8.
Keywords
Chromosome MappingDNA Mutational Analysis/statistics & numerical dataDNA PrimersElectrophoresisFemaleGenetic Screening/*methodsHumansKorea/epidemiologyMalePedigreePolycystic Kidney, Autosomal Dominant/*epidemiology/*geneticsPrevalenceSensitivity and Specificity*TRPP Cation Channels
Abstract
Autosomal 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.
ISSN
0009-9163 (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17100995

http://hdl.handle.net/10371/28481
DOI
https://doi.org/10.1111/j.1399-0004.2006.00721.x
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College of Medicine/School of Medicine (의과대학/대학원)Internal Medicine (내과학전공)Journal Papers (저널논문_내과학전공)
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