ABCMdb

PMID: 19383231

Aoyagi H, Okada T, Hasatani K, Mibayashi H, Hayashi Y, Tsuji S, Kaneko Y, Yamagishi M
Impact of cystic fibrosis transmembrane conductance regulator gene mutation on the occurrence of chronic pancreatitis in Japanese patients.
J Int Med Res. 2009 Mar-Apr;37(2):378-84., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Arg1453Trp ABCC7 p.Arg1453Trp When the CFTR coding regions of patients with ICP were screened, a mis-sense mutation was detected in one allele in one patient: a C-to-T substitution at position 4353 of the cDNA, which led to one amino acid substitution of arginine to tryptophan at codon 1453 (Arg1453Trp) (Fig. 2). Login to comment 40 ABCC7 p.Arg1453Trp ABCC7 p.Arg1453Trp FIGURE 2: A mis-sense mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was detected in one allele in one patient: a C-to-T substitution at position 4353 of the cDNA, which led to one amino acid substitution of arginine to tryptophan at codon 1453 (Arg1453Trp) Pro His Arg Asn Control Pro His Trp Asn Pro His Arg Asn Patient than observed in healthy controls. Login to comment 46 ABCC7 p.Arg1453Trp Although it has been reported that 19% of patients with a presumed diagnosis of ICP have mutations in the cationic trypsinogen-encoding gene, PRSS1,15 hereditary pancreatitis differs from ICP in that it leads to pancreatic adenocarcinoma with a cumulative risk approaching 40%.16 A mis-sense mutation, Arg1453Trp, in the CFTR gene was found in one patient with IPC in the present study. Login to comment 48 ABCC7 p.Arg1453Trp In conclusion, mutation in the CFTR gene, especially the 5T genotype, appears to be FIGURE 3: The mis-sense mutation, Arg1453Trp, in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was confirmed using restriction fragment length polymorphism (RFLP). Login to comment