ABCMdb

PMID: 16954950

Sobczynska-Tomaszewska A, Bak D, Oralewska B, Oracz G, Norek A, Czerska K, Mazurczak T, Teisseyre M, Socha J, Zagulski M, Bal J
Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis.
J Pediatr Gastroenterol Nutr. 2006 Sep;43(3):299-306., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Glu264Val The subjects were screened for PRSS1 mutations: R122H, R122C, A16V, N29I; SPINK1 N34S variant; panel of 14 CFTR defects: INNOLiPA CFTR12, CFTRdele2,3 and IVS8-T variant or panel of 3 CFTR defectsVF508del, CFTRdele2,3 and IVS8-T; AAT mutations: E264V, E342K. Login to comment 63 ABCC7 p.Glu264Val Genotyping for E264V (PiS) and E342K (PiZ) variants of AAT was done in accordance with Henry et al. (15). Login to comment 64 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser1251Asn ABCC7 p.Arg560Thr ABCC7 p.Gln552* For the first 50 patients enrolled in this study, the CFTR mutations F508del, G542X, G551D, R553X, N1303K, W1282X, 1717-1G/A, I507del, S1251N, R560T, 3905insT, Q552X (INNO-LiPA CFTR12, Innogenetics, Gent, Belgium), CFTRdele2,3 (16) and polyT variant in intron 8 (IVS8-T) (17) were analyzed. Login to comment 74 ABCC7 p.Glu264Val ABCC7 p.Glu264Val ABCC7 p.Glu264Val ABCC7 p.Glu264Val Molecular defects were found in 12 control samples: 5 cases of IVS8-5T/j (CFTR), 2 cases of N34S/j (SPINK1) and 5 cases of the E264V: 1 x E264V/E264V, 4 x E264V/j (AAT). Login to comment 90 ABCC7 p.Glu264Val In contrast, the overall frequency of mutations E264V and E342K in the AAT was lower than in the control group (Table 3). Login to comment 143 ABCC7 p.Glu264Val In our study, the frequency of the PIS (E264V) and PIZ (E342K) alleles was lower than for control group (Table 3). Login to comment