ABCMdb

PMID: 24593045

Marson FA, Bertuzzo CS, Ribeiro AF, Ribeiro JD
Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study.
BMC Med Genet. 2014 Mar 4;15:27. doi: 10.1186/1471-2350-15-27., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* CFTR mutation identification CFTR mutation identification was performed by polymerase chain reaction (PCR) for F508del and the fragment-length polymorphism method for G542X, R1162X, R553X, G551D, and N1303K mutations. Login to comment 48 ABCC7 p.Ile618Thr Some CF mutations were identified by sequencing or Multiplex Ligation-dependent Probe Amplification (MLPA) analysis: S4X, 2183A > G, 1717-G > A, and I618T. Login to comment 51 ABCC7 p.Arg334Trp ABCC7 p.Pro205Ser All class I, II or III mutations, but not class IV mutations (P205S and R334W), identified were included in statistical analysis. Login to comment 121 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Ile618Thr An analysis of genotypic combinations for GSTM1 and GSTP1 polymorphic loci showed that changes in GSTP1 activities Table 3 Genotyping of GCLC, GSTM1, GSTT1, and GSTP1 polymorphisms and CFTR mutations Gene Chromosomal position Location Polymorphism MAF HWE p-valuea GCLC, rs17883901 6p12 Promoter region C > T 0.12 9.97 <0.005 GCLC, rs137852340 6p12 Promoter region A > G 0.19 0.04 >0.05 GSTP1, rs1695 11q13 Exon A > G 0.25 1.11 >0.05 GSTM1 1p13.3 Deletion GSTT1 22q11.23 Deletion CFTR mutation N Frequency F508del/F508del 57 31.67% F508del/G542X 12 6.67% F508del/R1162X 5 2.78% F508del/N1303K 4 2.22% F508del/R553X 1 0.56% F508del/S4X 1 0.56% F508del/1717-1G > A 1 0.56% G542X/R1162X 1 0.56% G542X/I618T 1 0.56% G542X/2183A > G 1 0.56% R1162X/R1162X 1 0.56% F508del/- 45 25.00% G542X/- 5 2.78% R1162X/- 1 0.56% -/- 44 24.45% MAF, Minor allele frequency; HWE, Hardy Weinberg Equilibrium; a P-value for Hardy-Weinberg Equilibrium; N, Number of patients; -, No identified CFTR mutation. Login to comment