ABCMdb

PMID: 16837565

Cabello GM, Cabello PH, Llerena JC Jr, Fernandes O
Polymorphic markers suggest a gene flow of CFTR gene from Sub-Saharan/Arabian and Mediterranean to Brazilian Population.
J Hered. 2006 Jul-Aug;97(4):313-7. Epub 2006 Jul 12., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Arg334Trp Although there is a remarkable linkage disequilibrium between these markers with CFTR locus, the mutations R334W (7T-1-2 and 7T-2-1) and the 3120 þ 1G / A (7T-1-2 and 9T-1-2) are associated with two different haplotypes probably introduced in the Brazilian population by migration. Login to comment 23 ABCC7 p.Gly551Asp ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Pro205Ser ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Tyr1092* A previous screening of the whole coding region and flanking intronic sequences from the 23 exons of the CFTR gene in 190 chromosomes allowed us to identify 11 different mutations: DF508 (28.4%), G85E (4.7%), 3120 þ 1G / A (3.7%), R334W (2.6%), G542X (2.1%), P205S (1.0%), G551D (0.5%), R1162X (0.5%), Y1092X (0.5%), S549R (0.5%), and S4X (0.5%) (Cabello GMK, Cabello PH, Otsuki, and others 2005). Login to comment 67 ABCC7 p.Arg334Trp The DF508, R334W, and 3120 þ 1G / A mutations were found linked with 2 different haplotypes as shown in Table 7. Login to comment 68 ABCC7 p.Gly542* The most common 9T-1-1 haplotype among Caucasians was also the most frequent haplotype linked to DF508 and G542X mutations in our patients. Login to comment 88 ABCC7 p.Gly542* The 9T-1-1 haplotype was also found to be associated with G542X mutation. Login to comment 97 ABCC7 p.Arg334Trp Moreover, the R334W and 3120 þ 1G / A mutations were associated with 2 different haplotypes (7T-1-2 or 7T-2-1 and 9T-1-2 or 7T-1-2, respectively). Login to comment 99 ABCC7 p.Arg334Trp Although recombination events cannot be excluded, the occurrence of R334W mutation associated with 2 different haplotypes in our population could suggest an origin in different genetic background introduced in Brazilian population by migrations. Login to comment