ABCMdb

PMID: 12939655

Perri F, Piepoli A, Stanziale P, Merla A, Zelante L, Andriulli A
Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.
Eur J Hum Genet. 2003 Sep;11(9):687-92., [PubMed]

Sentences

No. Mutations Sentence Comment

33 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Tyr122* ABCC7 p.Arg560Thr Mutation screening of the CFTR gene The 31 most frequent mutations (F508del, I507del, G551D, G542X, N1303K, 1717-1G4A, W1282X, R553X, R347P, R347H, R334W, 3849+10kb C4T, R117H, 621+1G4T, A455E, S549N, R560T, S549R, V520F, Q493X, 3849+ 4A4G, 1078delT, R1162X, 3659delC, 3905insT, Y122X, 2183delAA4G, 2789+5G4A, 1898+1G4A, 711+1G4T, and G85E) were examined with the polymerase chain reaction (PCR) followed by an oligonucleotide ligation assay (OLA, Applied Biosystems, Foster City, CA, USA) and finally a sequence-coded separation. Login to comment 34 ABCC7 p.Thr338Ile ABCC7 p.Gln552* ABCC7 p.Ser589Asn Other seven mutations, frequently observed in Italian CF patients (Q552X; 711+5G4A; 2790-2A4G; S589N; T338I; 1898+3A4G, and 1717-8G4A), were examined by sequencing. Login to comment 67 ABCC7 p.Gly542* Our working hypothesis was that the pancreatic damage due to high alcohol intake could be due to either an abnormal allele in one of the three genes or a combination of multiple mutations occurring in the two alleles of the same gene (compound heterozygote) or different genes (trans- Table 1 Demographic and clinical data ACP All CFTR Mut SPINK1 Mut Mut negative N 45 4 3 38 Sex (M/F) 44/1 4/0 3/0 37/1 Age (years) 3875 3673 3774 3875 Age at onset (years) 3075 2976 3075 3276 Symptoms` duration (years) 872 773 773 673 Alcohol (g/day) 160743 130720 133723 166744 Smokers 26 3 2 21 ALD N 34 1 3 30 Sex (M/F) 28/6 1/0 3/0 24/6 Age (years) 4476 46 3977 4476 Age at onset (years) 3677 35 33711 3776 Symptoms` duration (years) 873 11 774 673 Alcohol (g/day) 140741 140 133723 140743 Smokers 19 1 1 17 Table 2 Sequence variations identified in the PRSS1, CFTR, and SPINK1 genes in 45 ACP patients CFTR Patients n PRSS1 Mutant Poly T SPINK1 1 1 Fa F508del NDb F 2 1 F G542X 7/9 F 3 1 F 711+1G>T 7/7 F 4 1 F 711+1G>T 7/7 F 5 1 F F 7/7 P55S 6 1 F F 5/7 IVS2-23A>T 7 1 F F 7/9 N34S 8 1 F F 7/7 ND 9-10 2 F F 5/7 F 11-37 27 F F 7/7 F 38-45 8 F F 7/9 F a indicates two wild alleles. Login to comment 69 ABCC7 p.Gly85Glu Table 3 Sequence variations identified in the PRSS1, CFTR, and SPINK1 genes in 34 ALD patients CFTR Patients n PRSS1 Mutant Poly T SPINK1 1 1 Fa F NDb P55S 2 1 F F 7/7 P55S 3 1 F F 7/7 MIT 4 1 F G85E 5/7 F 5 1 F F 5/5 F 6 1 F F 5/9 F 7-8 2 F F 5/7 F 9-27 19 F F 7/7 F 28 1 F F 7/7 ND 29-34 6 F F 7/9 F See Table 2. heterozygote). Login to comment