ABCMdb

PMID: 18788470

Flores-Martinez SE, Martinez JF, Machorro-Lazo MV, Garcia-Zapien AG, Salgado-Goytia L, Cruz-Quevedo EG, Moran-Moguel MC, Sanchez-Corona J
XV-2c/KM19 haplotypes analysis of cystic fibrosis patients from western Mexico.
Acta Physiol Hung. 2008 Sep;95(3):313-25. doi: 10.1556/APhysiol.95.2008.3.7., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Gly542* The F508del and G542X mutations were strongly associated with haplotype B (96.7% and 100% of chromosomes, respectively). Login to comment 71 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg352Gln Of the 64 CF chromosomes, 30 carried the F508del mutation, 7 the G542X mutation, and the remaining 27 chromosomes carried the 3849+10 Kb C>T, 621+1 G>T, G551D, R553X, F311de1, R352Q, R74W mutations, as well as the new mutation 2053-2060del (unpublished data) or unidentified mutations; all of these were grouped as "other" (Table II). Login to comment 72 ABCC7 p.Gly542* The majority of the chromosomes with the F508del mutation (29/30) were found on chromosomes with haplotype B (96.7%), whereas all 7 chromosomes carrying the G542X mutation were on chromosomes with haplotype B (100%). Login to comment 78 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg352Gln (%) of XV-2c/KM19 haplotypes Chromosomes A B C D CF (n=64) 10 (15.6%) 46 (71.9%) 5 (7.8%) 3 (4.7%) F508del (n=30) - 29 (96.7%) - 1 (3.3%) G542X (n=7) - 7 (100%) - - Other* (n=27) 10 (37.0%) 10 (37.0%) 5 (18.5%) 2 (7.4%) Non-CF (n=30) 18 (60%) 0 (0%) 9 (30%) 3 (10%) *Chromosomes bearing detected mutations (3849+10 Kb C>T, 621+1 G>T, G551D, R553X, F311del, R352Q, R74W, 2053-2060del), or unidentified mutations. Login to comment 99 ABCC7 p.Gly542* The difference between the studies is more evident when the frequencies of haplotype B and the G542X mutation are compared. Login to comment 101 ABCC7 p.Gly542* (20) reported that 56.7% of CF chromosomes were mainly associated with haplotype B, and that the G542X mutation was associated with haplotype B in 72.7% of the chromosomes. Login to comment 102 ABCC7 p.Gly542* In our CF chromosomes, haplotype B was present in 71.9% of CF chromosomes and in 100% of G542X chromosomes (Table III). Login to comment 124 ABCC7 p.Gly542* Herein, we have identified a very high association of the F508del mutation and an even higher association of G542X mutation with haplotype B. Login to comment 128 ABCC7 p.Gly542* Therefore, a haplotype analysis using markers KM19 and XV-2c might be useful as a first screening strategy to offer a molecular diagnosis for the western Mexican families, emphasizing the fact that, in our study, haplotype B was absent in all chromosomes of individuals free of the clinical features of CF, and because the association of the F508del and G542X mutations with haplotype B in CF patients from western Mexico was higher than reported in Latin American and some Caucasian populations. Login to comment 129 ABCC7 p.Gly542* The use of XV-2c/KM19 haplotype analysis as a first screening strategy could offers several advantages, such as: the assessment of the carrier risk of patients, particularly with F508del and G542X mutations; the screening of individuals bearing mutations in the CFTR gene (heterozygotes detection); and allowing the implementation of detection programs for carrier detection of known and unknown mutations in first-degree relatives of CF patients who wish to know their carrier status. Login to comment