Article
Cystic fibrosis in Afro-Brazilians: XK haplotypes analysis supports the European origin of p.F508del mutation.
Genetica - 1 Feb 2017
de Souza D A S, Faucz F R, de Alexandre R B, Santana M A, de Souza E L S, Reis F J C, Pereira-Ferrari L, Sotomaior V S, Culpi L, Phillips J A, Raskin S
Abstract excerpt
Cystic fibrosis (CF) is a common autosomal recessive disorder, being the p.F508del the most frequent mutation. Also, a nearby restriction fragment length polymorphism (RFLP) named XK (KM19 and XV2C) is non-randomly associated with specific CF alleles. Our aim was to analyze the occurrence of the p.F508del mutation and XK haplotypes in Afro-Brazilians CF patients and controls, since these data is available for the...
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