Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.

@article{Raskin1997CysticFI,
  title={Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.},
  author={S Raskin and John A. Phillips and M. R. S. Krishnamani and Cindy Vnencak-Jones and Richard A. Parker and Tatiana Rozov and Joselina Cardieri and Paulo Jc Marostica and Fernando Abreu and Roberto Giugliani and Francisca Reis and Nelson Augusto Ros{\'a}rio and Norberto Ludwig and Lod{\'e}rcio Culpi},
  journal={Human biology},
  year={1997},
  volume={69 4},
  pages={499-508}
}
We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and correlate it with the allele frequencies at two polymorphic loci (XV-2C and KM-19) closely linked to the cystic fibrosis gene. The DNA came from 193 white Brazilian families affected by cystic fibrosis and living in five different states of Brazil. The distribution of the haplotypes derived from the DF508 and non-DF508 XV-2C/KM-19 genotypes indicates that 88% of the DF508 alleles are linked to… CONTINUE READING