ABCMdb

PMID: 10766983

Restrepo CM, Pineda L, Rojas-Martinez A, Gutierrez CA, Morales A, Gomez Y, Villalobos MC, Borjas L, Delgado W, Myers A, Barrera-Saldana HA
CFTR mutations in three Latin American countries.
Am J Med Genet. 2000 Apr 10;91(4):277-9., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Among them, the G542X, N1303K, and 3849+10kb C>T were the most common. Login to comment 7 ABCC7 p.Gly542* Two of these mutations, G542X and 3849+10kb C>T, that were relevant in this analysis, have a particularly high incidence in Spanish communities. Login to comment 34 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr The isolated DNA from each patient was amplified by polymerase chain reaction (PCR) using a kit for reverse dot blot detection of 16 common CF mutations: ⌬F508, R553X, G542X, G551D, N1303K, W1282X, R117H, R334W, R347P, A455E, ⌬I507, 1717-1 G>A, R560T, 3849+10kb C>T, 621+1 G>T, S549N [Villalobos-Torres et al., 1997]. Login to comment 43 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The next three most common alleles determined in the present study were G542X (4.7% present in the three countries studied), N1303K (1% present in Mexico and Colombia), and 3849+10kb C>T (1% present only in two Mexican CF chromosomes). Login to comment 44 ABCC7 p.Gly542* Besides ⌬F508 and G542X, no other CF alleles were detected in the Venezuelan sample. Login to comment 45 ABCC7 p.Trp1282* ABCC7 p.Ser549Asn In addition to these alleles, only three other CF mutations were detected: 621+1 G>T, S549N, and W1282X. Login to comment 46 ABCC7 p.Gly551Asp The G551D mutation, the third most common mutation worldwide, was not found in this analysis. Login to comment 54 ABCC7 p.Gly542* G542X mutation, the second most common allele worldwide, has a higher prevalence in Colombia (6.3%). Login to comment 56 ABCC7 p.Asn1303Lys N1303K and 3849+10kb C>T alleles, the third and twelfth most common CF mutations in the world [CFGAC, 1994], represent the third most common alleles in our study. Login to comment 57 ABCC7 p.Trp1282* ABCC7 p.Ser549Asn The three additional mutations found (W1282X, 621+1G>T, and S549N) represent only 1.5% of the CF allele occurrence in this analysis. Login to comment 59 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Besides the differences in ⌬F508 occurrence, the allele frequencies of G542X and N1303K mutations are similar for Mexico and Colombia, but differ from those found in Venezuela. Login to comment 62 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn Frequencies and (Chromosome Number) of CF Mutations Detected in Three Latin American Countries CF mutation Mexico % (90) Colombia % (48) Venezuela % (54) Total % (192) ⌬F508 47.8 (43) 35.4 (17) 29.6 (16) 39.6 (76) G542X 4.4 (4) 6.3 (3) 3.7 (2) 4.7 (9) N1303K 1.1 (1) 2.1 (1) 0.0 (0) 1.0 (2) 3849 + 10kb C > T 2.2 (2) 0.0 (0) 0.0 (0) 1.0 (2) W1282X 0.0 (0) 2.1 (1) 0.0 (0) 0.5 (1) 621 + 1 G > T 1.1 (1) 0.0 (0) 0.0 (0) 0.5 (1) S549N 1.1 (1) 0.0 (0) 0.0 (0) 0.5 (1) Non-⌬F508a 10.0 (9) 10.4 (5) 3.7 (2) 8.3 (16) Unknown 42.2 (38) 54.2 (26) 66.7 (36) 52.1 (100) a Detected with the 16 CF mutation panel in this study. Login to comment