ABCMdb

PMID: 16187186

Lee KH, Ryu JK, Yoon WJ, Lee JK, Kim YT, Yoon YB
Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis.
Dig Dis Sci. 2005 Oct;50(10):1852-6., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Gln1352His We investigated the prevalence of SPINK1 N34S and new CFTR Q1352H mutations in alcoholic chronic pancreatitis in Korea. Login to comment 6 ABCC7 p.Gln1352His The CFTR Q1352H mutation was examined with PCR direct sequencing. Login to comment 8 ABCC7 p.Gln1352His 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. Login to comment 10 ABCC7 p.Gln1352His 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. Login to comment 27 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys Pancreatic duct obstruction induced by a defective chloride channel, as a result of mutations in the CFTR gene, such as F508del, R117H, and N1303K, is the cause of pancreatic insufficiency in patients with cystic fibrosis. Login to comment 29 ABCC7 p.Arg117His However, cystic fibrosis is extremely rare in Asia, and F508del or R117H has not been reported in Japanese patients with chronic pancreatitis (24). Login to comment 30 ABCC7 p.Gln1352His Recently, Q1352H in exon 22 showed the strongest association with idiopathic chronic pancreatitis in the Korean population (25). Login to comment 31 ABCC7 p.Gln1352His In order to investigate the role of genetic mutations in the pathogenesis of alcoholic chronic pancreatitis, we examined the prevalence of SPINK1 (N34S) and CFTR (Q1352H) mutations in alcoholic chronic pancreatitis in Korea. Login to comment 52 ABCC7 p.Gln1352His The CFTR exon 22 mutation (Q1352H) was examined by sequencing after PCR. Login to comment 57 ABCC7 p.Gln1352His If the mutation of Q1352H was found, reverse sequencing with primer 5 -GGA TCC AAA TGA GCA CTG GGT TC-3 was performed to confirm the result. Login to comment 71 ABCC7 p.Gln1352His Mutational Analysis of CFTR Q1352H. Login to comment 73 ABCC7 p.Gln1352His A heterozygous Q1352H mutation of CFTR was detected in one (2.4%) patient with alcoholic Fig 1. Login to comment 81 ABCC7 p.Gln1352His (B) DNA sequence electrospherograms demonstrating a disease-associated CFTR Q1352H mutation. Login to comment 95 ABCC7 p.Arg117His F508del is the most frequent and R117H is the second most frequent mutation in Caucasian population (31). Login to comment 96 ABCC7 p.Arg117His However, cystic fibrosis is a rare disease in East Asia and common mutations in Caucasian populations such as F508del and R117H are rare in Korean and Japanese populations (24, 25). Login to comment 97 ABCC7 p.Gln1352His A recent study showed that the new CFTR Q1352H mutation was found in 19% of Korean patients with idiopathic chronic pancreatitis (25). Login to comment 98 ABCC7 p.Gln1352His So we investigated whether the CFTR Q1352H mutation is also associated with alcoholic chronic pancredatitis. Login to comment 99 ABCC7 p.Gln1352His The CFTR Q1352H mutation was detected in only 1 of 43 patients with alcoholic chronic pancreatitis in this study. Login to comment 114 ABCC7 p.Gln1352His In conclusion, this study shows that CFTR Q1352H and SPINK1 N34S mutations do not play a major role in chronic alcoholic pancreatitis in Korea. Login to comment