ABCMdb

PMID: 23056764

Dooki MR, Akhavan-Niaki H, Juibary AG
Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran.
Iran J Pediatr. 2011 Mar;21(1):51-7., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* deltaF508, N1303K, G542X, R347H and W1282X using Reverse Dot Blot method. Login to comment 22 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Only four (p.G542X, p.N1303K, p.G551D and p.W1282X) have overall frequencies higher than 1%[5]. Login to comment 23 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Intriguingly, p.G542X and p.N1303K are found on the same haplotype background as ∆F508, suggesting that they arose in the same population[6]. Login to comment 27 ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* We selected five mutations, deltaF508, N1303K, G542X, R347H and W1282X based on previous reports in Iran and neighboring countries. Login to comment 67 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg347Pro ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* Table 1: Human cystic fibrosis transconductance regulator probes CFTR probe sequenceLocation in the CFTR geneProbe name 5'-NH2-GAAACACCAAAGATGATA-3'Exon10∆F508-N 5'-NH2-GGAAACACCAATGATATT-3'Exon10∆F508-MUT 5'-NH2-TATAGTTCTTGGAGAAGGTG3'Exon11G542X-N 5'-NH2-TATAGTTCTTTGAGAAGGTG-3'Exon11G542X-MUT 5'-NH2-GCTTTCCTCCACTGTTG-3'Exon20W1282X-N 5'-NH2-CAACAGTGAAGGAAAGC-3'Exon20W1282X-MUT 5'-NH2-AGAAAAAACTTGGATCC-3'Exon21N1303K-N 5'-NH2-GGGATCCAACTTTTTTCT-3'Exon21N1303K-MUT 5'-NH2-AATTGTTCTGCGCATGG-3'Exon7R347H-N 5'-NH2-CATTGTTCTGCCCATGGC-3'Exon7R347H-MUT Table 2: Human cystic fibrosis transmembrane conductance regulator primers Cystic fibrosis primer sequence Exon amplified Cystic fibrosis primer name Cystic fibrosis mutation tested 5'-Biotin-AGACCATGCTCAGATCTTCCAT-3' 5'-Biotin-GCAAAGTTCATTAGAACTGATC-3' 7 CF7-F CF7-R R347P 5'-Biotin-GCAGAGTACCTGAAACAGGA-3' 5'-Biotin-CATTCACAGTAGCTTACCCA-3' 10 CF10-F CF10-R ∆F508 5'-Biotin-CAACTGTGGTTAAAGCAATAGTGT-3' 5'-Biotin-GCACAGATTCTGAGTAACCATAAT-3' 11 CF11-F CF11-R G542X 5'-Biotin-TGGGCCTCTTGGGAAGAACT-3' 5'-Biotin-CTCACCTGTGGTATCACTCC-3' 20 CF20-F CF20-R W1282X 5'-Biotin-GGTAAGTACATGGGTGTTTC-3' 5'-Biotin-CAAAAGTACCCTGTTGCTCCA-3' 21 CF21-F CF21-R N1303K Genotype Analysis: Mutation screening of the CFTR gene in 60 alleles by reverse dot blot hybridization for five common mutations showed that 13 (21.6%) alleles were ∆F508. Login to comment 69 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The other four mutations tested (N1303K, G542X, R 347H and W1282X) were not encountered in these patients. Login to comment 80 ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The other four mutations tested: N1303K, G542X, R347H and W1282X, were not found in these patients. Login to comment 88 ABCC7 p.Gly542* ABCC7 p.Gly542* Specifically, the four most common Turkish mutations were found in Iran, including ∆F508, c.1677delTA, p.G542X, and c.2183AA>G. Login to comment 89 ABCC7 p.Gly542* The "Mediterranean mutation", p.G542X, is reported to be of Phoenician origin[7-9,29,31]. Login to comment 98 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* Consequently, it is believed that the incidence of cystic fibrosis is also similarly high, and that the low incidence commonly believed to be associated cystic fibrosis is also similarly high, and that the Table 5: Comparison of the frequency of common CFTR mutations ∆F508, N1303K, G542X, R347H , W1282X in Europe and North Africa with Iran and some neighboring countries Region or Country Mutation Type Reference ∆F508 W1282X N1303K G542X R347H Europe and N Africa 66.8 1 1.6 2.6 0.8-3.6 6 Turkey 24.5-27 ND 2.9-3.7 2.6-4.9 3-3.6 6, 23, 25 Saudi Arabia 13 ND 2 ND ND 27, 28 India 19-27 ND ND ND ND 24, 26 Iran 16-17.8 0-4 4.3-5.5 1.6-3.6 1.6-3.6 7, 8, 9 Mazandaran 21.6 0 0 0 0 Present study ND: Not detected low incidence commonly believed to be associated with this non-European population is likely to be due to under-diagnosis. Login to comment 139 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Gly542* ABCC7 p.Ala120Thr Jalalirad M, Houshmand M, Mirfakhraie R, et al. First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations. Login to comment 140 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg347His ABCC7 p.Gly542* ABCC7 p.Ala120Thr Jalalirad M, Houshmand M, Mirfakhraie R, et al. First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations. Login to comment 219 ABCC7 p.Gly542* Loirat F, Hazout S, Lucotte G. G542X as a probable Phoenician cystic fibrosis mutation. Login to comment 222 ABCC7 p.Gly542* Loirat F, Hazout S, Lucotte G. G542X as a probable Phoenician cystic fibrosis mutation. Login to comment 234 ABCC7 p.Ser1118Phe Penmatsa H, Frederick CA, Nekkalapu S, et al. Clinical and molecular characterization of S1118F-CFTR. Login to comment 237 ABCC7 p.Ser1118Phe Penmatsa H, Frederick CA, Nekkalapu S, et al. Clinical and molecular characterization of S1118F-CFTR. Login to comment