ABCMdb

PMID: 15507145

Blaisdell CJ, Howard TD, Stern A, Bamford P, Bleecker ER, Stine OC
CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.
BMC Med Genet. 2004 Oct 26;5:26., 2004-10-26 [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Ser549Asn We examined human CLC-2 protein expression using lysates from primary nasal cells obtained from elective Table 1: Primers used to amplify CLC-2 polymorphisms Primer oligomer expected size (bp) rat hpolE1 dTCC GGG TCA ATA TCC TTC ACA TCG 2128 hClC-2 promoter dCGC CCG TGG CTC CAT CCC TTC 15F dGTC CCA GGA GTA GAC TTC C 760 bp 16R dCAC TGC CCT CTG GCC TC 17F dTCC CCT CCG GCC TAC CCC TTC CGG T 147 + 300 bp 18R dGGA AGG ATT CGG AGA GGG TTG GGG C Intron 1F dCGC TGC AGC ACG AGC AGA C 2273 Intron 1R dCCC AAG GTC CTG AGT GTA CC Exon 20F dGCC TCT TCT GTG GCA GTC C 481 Exon 20R dCTT CAG GGC TCA TCT CGC C ClC-2 expression by Western blot of nasal polyp lysatesfrom CF adults with the following genotypesFigure 1 ClC-2 expression by Western blot of nasal polyp lysates from CF adults with the following genotypes: Lanes 1,3,6 dF508/dF508; Lane 2: dF508/d559T; Lane 4: unknown; Lane 5: S549N/R553X; Lane 7,9: dF508/unknown; Lane 8: F508/ W1282X.; Lane 10, IB3-1 cell line, genotype F508/W1282X. Login to comment 63 ABCC7 p.Trp1282* In addition, the expression of ClC-2 protein was diminished in transformed bronchial epithelial IB3-1 cells [11] (lane 10, figure 1), which were derived from primary nasal epithelial cells of a subject with delF508/ W1282X (lane 8, figure 1). Login to comment