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Article: Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution
- Article from:
- Human Biology
- Article date:
- August 1, 1997
- Author:
CopyrightCopyright Wayne State University Press Aug 1997. Provided by ProQuest LLC. (Hide copyright information)
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Abstract 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 haplotype B and suggests that high heterogeneity exists among the non-DF508 cystic fibrosis alleles occurring in different states. Our data can be used to compare linkage disequilibrium ...
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