ABCMdb

PMID: 15241793

Steiner B, Truninger K, Sanz J, Schaller A, Gallati S
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
Hum Mutat. 2004 Aug;24(2):120-9., [PubMed]

Sentences

No. Mutations Sentence Comment

88 ABCC7 p.Ile148Thr ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Val920Met RESULTS Characterization of the CFTR Gene Mutations Mutations (c.575T4C (p.I148T), c.2890G4A (p.V920M), c.3586G4C (p.D1152H), and c.3837T4G (p.S1235R)) were found in 4 out of 66 healthy individuals (6%), a nonsignificant increase compared to the 4% carrier frequency reported in the literature for the Swiss population [Hergersberg et al., 1997]. Login to comment 90 ABCC7 p.Arg1162* Of the 23 patients undergoing CFTR gene analysis, only one patient, presenting with chronic rhinosinusitis, had two classic CF mutations [c.3616C4T (p.R1162X)]+[c.3272-26A4G] (Table 2). Login to comment 96 ABCC7 p.Arg75Gln Characterization of the CFTR Gene Polymorphisms Here, we included the T5 allele (c.1342-34(TG)10-13(T)5), and the c.1716A4G and the c.356C4A (p.R75Q) variant, which have been reported to be disease-causing alleles in CFTR-associated disorders [Chillon et al., 1995; Ockenga et al., 2000]. Login to comment 184 ABCC7 p.Gly576Ala ABCC7 p.Asp565Gly Sequence variations (i.e., p.D565G and p.G576A) in the newly identified composite exonic regulatory element of splicing (CERES) of exon 12 [Pagani et al., 2003b] were excluded by SSCP and sequence analysis. Login to comment