| Autor: |
Cabello, Giselda M. K., Cabello, Pedro H., Llerena Jr., Juan C., Fernandes, Octavio |
| Předmět: |
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| Zdroj: |
Journal of Heredity; Jul/Aug2006, Vol. 97 Issue 4, p313-317, 5p, 7 Charts |
| Abstrakt: |
The analysis of 2 diallelic loci (M470V and T854T) and a microsatellite IVS8(T)n of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has shown different haplotype distribution in Brazilian cystic fibrosis (CF) chromosomes carrying different CF mutations. The AF508 mutation was in absolute linkage disequilibrium with 1-1 haplotype (M470V-T854T). Most of AF508 chromosomes (84%) were found to carry, the IVS8-9T. The most frequent haplotypes IVS8-7T and 2-1 (M470V-T854T) were found associated with Non-ΔF508 mutations. 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 + 1G → A (7T-1-2 and 9T-l-2) are associated with two different haplotypes probably introduced in the Brazilian population by migration. These findings suggest that recombination events from the original haplotype and gene flow among different ethnic groups (sub-Saharan and Mediterranean) might have resulted in CF mutations associated with different haplotypes by independent introductions. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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