ABCMdb

PMID: 20879059

Kim KW, Lee JH, Lee MG, Kim KH, Sohn MH, Kim KE
Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea.
Yonsei Med J. 2010 Nov;51(6):912-7., [PubMed]

Sentences

No. Mutations Sentence Comment

48 ABCC7 p.Gln220* ABCC7 p.Gln1291* ABCC7 p.Gln98Arg ABCC7 p.Ile125Thr Among the 14 mutations, there are no mutant variants in Q98R, I125T, A309, Q220X, and Q1291X loci in our sample and the genotype frequencies of the remaining variants are listed in Table 3. Login to comment 53 ABCC7 p.Gln220* ABCC7 p.Glu217Gly ABCC7 p.Glu217Gly ABCC7 p.Gln1291* ABCC7 p.Arg1453Trp ABCC7 p.Arg1453Trp ABCC7 p.Gln98Arg ABCC7 p.Gln98Arg ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile125Thr ABCC7 p.Ile125Thr ABCC7 p.Gln1352His ABCC7 p.Gln1352His CFTR Genetic Variations Analyzed in This Study Name Nucleotide change Exon Consequence Reference - 8G / C G to C at 125 5` UTR sequence variation 9 Q98R A to G at 425 Exon 4 Gln to Arg at 98 8 I125T T to C at 506 Exon 4 Ile to Thr at 125 9 E217G A to G at 782 Exon 6a Glu to Gly at 217 9 Q220X C to T at 790 Exon 6a Gln to Stop at 220 7, 8 A309A C or G at 1059 Exon 7 Sequence variation 9 TG repeat TG10-13 IVS 8 Splicing 9 T repeat T5-9 IVS 8 Splicing 9 M470V A or G at 1540 Exon 10 Met to Val at 470 9 I556V A to G at 1798 Exon 11 Ile to Val at 556 9 T854T T to G at 2694 Exon 14a Sequence variation 9 Q1291X C to T at 4003 Exon 20 Gln to Stop at 1291 9 Q1352H G to C at 4188 Exon 22 Gln to His at 1352 9 R1453W C to T at 4489 Exon 24 Arg to Trp at 1453 9 CFTR,cysticfibrosistransmembraneconductanceregulator. Login to comment 69 ABCC7 p.Glu217Gly ABCC7 p.Arg1453Trp ABCC7 p.Ile556Val ABCC7 p.Gln1352His Frequency of CFTR Genetic Variations in Non-Asthma and Asthma Group Variants Non-asthma (n) Asthma (n) p value* - 8G / C G / G 39 37 0.466 G / C 8 11 C / C 1 0 E217G A / A 48 46 0.247 A / G 0 2 M470V A / A 8 10 0.858 A / G 25 23 G / G 15 15 I556V A / A 42 45 0.276 A / G 4 3 T854T T / T 15 16 0.639 T / G 26 22 G / G 7 10 Q1352H G / G 46 46 0.383 G / C 2 2 R1453W C / C 47 46 0.500 C / T 0 1 Microsatellite TG repeat (IVS 8)� W / W� 10 12 0.119 W / M 27 18 M / M 10 18 T repeat (IVS 8) 5 / 7 2 1 0.141 6 / 7 0 1 7 / 7 44 42 7 / 9 1 4 CFTR,cysticfibrosistransmembraneconductanceregulator. Login to comment 70 ABCC7 p.Gln220* ABCC7 p.Ile125Thr *pvalueswereobtainedbyusingtheχ2 testorFisher`sexacttest(expectedcellvalue<5)andtheQ98R,I125T,A309,Q220X,andQ1291X variantswereexcludedfromthetablebecauseofnofrequency. Login to comment 75 ABCC7 p.Glu217Gly ABCC7 p.Glu217Gly ABCC7 p.Glu217Gly ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Gln1352His However the background haplotype for ∆F508,27 which accounts for 66% of worldwide cystic fibrosis, is very rare in the Korean population.11 Besides, genetic variants at Q1352H or E217G were found to be associated with bronchiectasis and/or chronic pancreatitis in the Korean population.11 In particular, nonsynonymous Q1352H and E217G mutations in the M470 background caused a 60-80% reduction in CFTR-dependent Cl- currents and HCO3-transport activities. Login to comment 77 ABCC7 p.Gln220* ABCC7 p.Gln1291* In addition, Q220X and Q1291X mutations that give rise to premature stop codon can lead to aberrant function. Login to comment