ABCMdb

PMID: 18938114

Collazo T, Bofill AM, Clark Y, Hernandez Y, Gomez M, Rodriguez F, Ramos MD, Gimenez J, Casals T, Rojo M
Common mutations in Cuban cystic fibrosis patients.
J Cyst Fibros. 2009 Jan;8(1):47-9. Epub 2008 Oct 19., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120+1G>A) taking into account the ethnic origin of the Cuban population which is mainly influenced by Spanish and sub-Sahara African contribution. Login to comment 3 ABCC7 p.Asn1303Lys All but p.N1303K have been detected in our patients, the p.F508del being the most prevalent (37.9%). Login to comment 25 ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* Seven CF mutations were analyzed: p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X, c.3120+ 1G>A in all patients. Login to comment 26 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* Amplification Refractory of Mutations Specific (ARMS) [6] was carried out to detect four mutations: p.F508del, p.G542X, p.R1162X, p.N1303K. Login to comment 27 ABCC7 p.Arg553* ABCC7 p.Arg334Trp The remaining three mutations, p.R334W [7], p.R553X [8] and c.3120+1G>A [9], were directly investigated by enzymatic digestion of the corresponding PCR products. Login to comment 36 ABCC7 p.Gly542* Concerning the frequency of p.G542X mutation (6.8%), a high prevalence of this mutation has also been reported in Mexico (6.2%) [14] and Costa Rica (25%) [18], strongly suggesting the Spanish influence in all cases. Login to comment 37 ABCC7 p.Arg334Trp Such founder effect could also be postulated for p.R334W mutation (5.2% in Cuba). Login to comment