From: Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
Genotype | Mutation Class | Position | Nucleotide variation | Protein change | Zygosity | No.(%) of cases |
---|---|---|---|---|---|---|
Mutations | ||||||
3120+1G>Aa | Class I | Intron 16 | c.2988+1G>A | – | homozygous | 3(4.17%) |
W1282Xb | Class I | Exon 20 | c.3846G>A | p.Trp1282X | Homozygous | 3(4.17%) |
F508delc | Class II | Exon 10 | c.1521_1523delCTT | p.Phe508del | Homozygous | 2 (2.78%) |
R1162Xb | Class IV | Exon 19 | c.3484C>T | p.Arg1162X | Homozygous | 2(2.78%) |
3272-26A>G | Class V | Intron 17 | c.3140-26A>G | – | Homozygous | 1(1.38%) |
R347P | Class IV | Exon 7 | c.1040G>C | p.Arg347Pro | Homozygous | 1(1.38%) |
I507del | Class II | Exon10 | c.1519_1521delATC | p.Ile507del | Homozygous | 1(1.38%) |
2183AA>G | Class I | Exon 13 | c.20512052delAAinsG | p.Lys684SerfsX38 | Homozygous | 1(1.38%) |
Total cases with detected mutations | 14/72 (19.44%) | |||||
c.1210-12T[n] background | ||||||
IVS8 7T/7T | – | Intron 8 | c.1210-12 T[7] | – | Homozygous | 36 (50%) |
IVS8 7T/9T | – | Intron 8 | c.1210-12 T[7] /[9] | – | Heterozygous | 10 (13.9%) |
IVS8 9T/9T | – | Intron 8 | c.1210-12 T[9] | – | Homozygous | 5 (6.94%) |
IVS8 5T/7T | – | Intron 8 | c.1210-12 T[5] /[7] | – | Heterozygous | 2 (2.78%) |
Total cases with detected polymorphic variants | 53/72 (73.62%) | |||||
Unidentified | 5 (6.94%) |