ABCMdb

PMID: 11117575

Kimura S, Okabayashi Y, Inushima K, Yutsudo Y, Kasuga M
Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis.
Dig Dis Sci. 2000 Oct;45(10):2007-12., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Arg117His In this study, we investigated the association of mutations or polymorphisms of the CFTR gene with chronic pancreatitis in Japanese patients. Forty-seven patients with chronic pancreatitis (alcohol-related in 31, idiopathic in 14, and familial in 2) were examined for the ⌬F508 and R117H mutations and polymorphisms of intron 8. Login to comment 5 ABCC7 p.Arg117His None of the patients had ⌬F508 or R117H mutations in the CFTR gene. Login to comment 13 ABCC7 p.Arg117His These mutations include an arginine-to-histidine substitution at residue 117, and an asparagine-to-isoleucine substitution at residue 21 (1, 2). Login to comment 18 ABCC7 p.Arg117His ABCC7 p.Arg117His Among the CFTR mutations observed in patients with chronic pancreatitis, ⌬F508 is the most frequent and arginine-to-histidine substitution at residue 117 (R117H) is second most frequent in Caucasian populations. Login to comment 34 ABCC7 p.Arg117His We extracted DNA from blood samples and tested for ⌬F508 and R117H mutations, which are commonly identified in Caucasian patients with chronic pancreatitis (4, 5). Login to comment 37 ABCC7 p.Arg117His The allele-specific PCR was used to detect R117H mutation (8). Login to comment 61 ABCC7 p.Arg117His The R117H mutation of exon 4 of the CFTR gene is a G-to-A substitution at nucleotide position 482. Login to comment 62 ABCC7 p.Arg117His Two reactions were performed for each DNA sample, with specific primers for the wild-type and mutant R117H alleles. A 360-bp fragment of exon 3 of ␣1-antitrypsin was simultaneously amplified as an internal control. Login to comment 63 ABCC7 p.Arg117His In 47 patients with chronic pancreatitis, we could not detect the mutant R117H bands in our samples (Figure 1B). Login to comment 73 ABCC7 p.Arg117His Allele-specific polymerase chain reaction analysis of ⌬F508 (A) and R117H of the CFTR gene (B). Login to comment 75 ABCC7 p.Arg117His Next two tracks are the products of the normal (lane N) and ⌬F508 or R117H mutant reactions (lane M) using a patient`s DNA sample. Login to comment 115 ABCC7 p.Arg117His The pancreatic sufficiency phenotype occurs in patients who have one or two mild CFTR mutations such as R117H, whereas the pancreatic insufficiency phenotype occurs in patients with two severe alleles such as ⌬F508 (20). Login to comment 127 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Gln493* ABCC7 p.Arg560Thr Other mutations included R117H in two patients and Q493X, R553X, R560T, and 621 ϩ 1(G-to-T) in one patient each. Login to comment 128 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys Cohn et al (5) studied 27 patients with chronic idiopathic pancreatitis and detected three different mutations in eight patients: ⌬F508 in five, R117H in two, and N1303K in one. Login to comment 130 ABCC7 p.Arg117His The second mutation frequently detected in the patients with chronic pancreatitis is R117H. Login to comment