ABCMdb

PMID: 11755047

Gomez-Llorente MA, Suarez A, Gomez-Llorente C, Munoz A, Arauzo M, Antunez A, Navarro M, Gil A, Gomez-Capilla JA
Analysis of 31 CFTR mutations in 55 families from the South of Spain.
Early Hum Dev. 2001 Nov;65 Suppl:S161-4., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Arg1162* Seven more mutations (G542X, R334W, R1162X, 2789 + 5G ! Login to comment 6 ABCC7 p.Arg117His ABCC7 p.Trp1282* A, R117H, DI507 and W1282X) were detected and accounted for 24.7% of the total. Login to comment 27 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Gly85Glu ABCC7 p.Phe508Cys The patients and their families were referred to us from six Table 1 Listing of the CFTR mutations which are interrogated in the CF assay used in this study Mutation Location Mutation Location Exon/Intron Exon/Intron DF508 E.10 W1282X E.20 F508C E.10 3905insT E.20 DI507 E.10 N1303K E.21 Q493X E.10 G85E E.3 V520F E.10 621 + 1G ! Login to comment 29 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Tyr122* A I.10 R117H E.4 G542X E.11 Y122X E.4 G551D E.11 711 + 1G ! Login to comment 30 ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr T I.5 R553X E.11 1078delT E.7 R560T E.11 R347P E.7 S549R E.11 R347H E.7 S549N E.11 R334W E.7 3849 + 10kbC ! Login to comment 31 ABCC7 p.Ala455Glu T I.19 A455E E.9 3849 + 4A ! Login to comment 33 ABCC7 p.Arg1162* A I.12 R1162X E.19 2184delA E.13 3659delC E.19 2789 + 5G ! Login to comment 48 ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Arg1162* Interestingly, this frequency is Table 2 CFTR mutations identified in 55 families (350 chromosomes) from the south of Spain Mutations Frequency (%) Location Exon/Intron DF508 43.5 E.10 G542X 11.4 E.11 R334W 5.0 E.7 R1162X 3.0 E.19 2789 + 5G ! Login to comment 49 ABCC7 p.Arg117His ABCC7 p.Trp1282* A 2.3 I.14b R117H 1.0 E.4 DI507 1.0 E.10 W1282X 1.0 E.20 Known 68.2 Unknown 31.8 M.A. Go &#b4;mez-Llorente et al. / Early Human Development 65 Suppl. Login to comment 53 ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Arg1162* They were G542X, R334W, R1162X, 2789 + 5G ! Login to comment 54 ABCC7 p.Arg117His ABCC7 p.Trp1282* A, R117H, DI507 and W1282X, which are relatively common in other European populations. Login to comment 55 ABCC7 p.Gly542* G542X was the second most common mutation found in the present study, at a similar frequency to that reported for the rest of the Spanish population [2]. Login to comment 56 ABCC7 p.Gly542* G542X and DF508 together represented 80% of all mutations detected in the present study. Login to comment 62 ABCC7 p.Arg1066Cys ABCC7 p.Gln890* G, R1066C, 1609delCA and Q890X) were not detected by Applied Biosystems analytical method and may account for the high number of uncharacterised CF alleles. Login to comment 64 ABCC7 p.Arg1066Cys ABCC7 p.Gln890* G, R1066C, 1609delCA and Q890X mutations in our uncharacterised CF chromosomes. Login to comment