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Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis

Cited 21 time in Web of Science Cited 22 time in Scopus
Authors
Lee, Kwang Hyuck; Ryu, Ji Kon; Yoon, Won Jae; Lee, Jun Kyu; Kim, Yong-Tae; Yoon, Yong Bum
Issue Date
2005-09-28
Publisher
Springer Verlag
Citation
Dig Dis Sci. 2005 Oct;50(10):1852-6.
Keywords
Asian Continental Ancestry Group/*geneticsCarrier Proteins/*geneticsCase-Control StudiesCystic Fibrosis Transmembrane Conductance Regulator/*geneticsDNA Mutational AnalysisFemaleHumansMaleMiddle AgedPancreatitis, Alcoholic/*geneticsPolymerase Chain ReactionPolymorphism, Restriction Fragment Length
Abstract
Several genetic mutations have been reported to increase susceptibility to chronic pancreatitis. However, their roles in alcoholic chronic pancreatitis are controversial. We investigated the prevalence of SPINK1 N34S and new CFTR Q1352H mutations in alcoholic chronic pancreatitis in Korea. Forty-three patients with alcoholic chronic pancreatitis were enrolled and 35 healthy individuals served as controls. The SPINK1 N34S mutation was detected by the PCR-RFLP technique. The CFTR Q1352H mutation was examined with PCR direct sequencing. Mean age of chronic pancreatitis and control groups was 53.2 and 51.3 years, respectively. A SPINK1 N34S was detected as a heterozygote in one (2.4%) patient with alcoholic chronic pancreatitis and a heterozygote CFTR Q1352H was detected in one other patient. In the control population, neither SPINK1 nor CFTR mutation was detected. This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an important role in chronic alcoholic pancreatitis in Korea.
ISSN
0163-2116 (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16187186

http://hdl.handle.net/10371/22092
DOI
https://doi.org/10.1007/s10620-005-2950-9
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College of Medicine/School of Medicine (의과대학/대학원)Internal Medicine (내과학전공)Journal Papers (저널논문_내과학전공)
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