ABCMdb

PMID: 12521276

Eskandarani HA
Cystic fibrosis transmembrane regulator gene mutations in Bahrain.
J Trop Pediatr. 2002 Dec;48(6):348-50., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ile1234Val Isolation and PCR amplification of genomic DNA Genomic DNA was extracted from leucocytes according to standard procedures.10 PCR amplification of DNA was performed by preparation of a 50-µl reaction mixture that contained appropriate primers using standard protocols.4 Mutation analysis All patients were screened for 15 common mutations amongst Arabs by restriction enzyme digestion analysis with appropriate enzymes according to specific protocols4,5 and/or using the amplification refractory mutation system (ARMS-PCR) technique.11 These mutations were: 406-2A→G (intron 3), 425del42 (exon 4), 475G→T (exon 4), 548A→T (exon 4), 1161delC (exon 7), 1548delG (exon10), F508 (exon 10), G542X (exon 11), 2043delG (exon 13), 3120+1G→A (intron 16), 3661A→T (exon 19), 3849+10KbC→T (intron 19), I1234V (exon 19), W1282X (exon 20), and N1303K (exon 21). Login to comment 51 ABCC7 p.Ile1234Val However, mutation I1234V, which is specifically the most common mutation amongst neighboring Qatari patients8 and is generally a common mutation in Arab patients,5 was not detected in Bahraini patients. Login to comment