title: Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.
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 between Brazilians and other heterogeneous populations where the DF508 mutation frequency is low and where many different rare mutations account for the remaining recessive cystic fibrosis alleles.
authors.affiliation: Department of Pediatrics, Vanderbilt University, Nashville, TN, USA.
authors.forename: S
authors.initials: S
authors.lastname: Raskin
authors.forename: J A
authors.initials: JA
authors.lastname: Phillips
authors.forename: M R
authors.initials: MR
authors.lastname: Krishnamani
authors.forename: C
authors.initials: C
authors.lastname: Vnencak-Jones
authors.forename: R A
authors.initials: RA
authors.lastname: Parker
authors.forename: T
authors.initials: T
authors.lastname: Rozov
authors.forename: J M
authors.initials: JM
authors.lastname: Cardieri
authors.forename: P
authors.initials: P
authors.lastname: Marostica
authors.forename: F
authors.initials: F
authors.lastname: Abreu
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
authors.forename: F
authors.initials: F
authors.lastname: Reis
authors.forename: N A
authors.initials: NA
authors.lastname: Rosario
authors.forename: N
authors.initials: N
authors.lastname: Ludwig
authors.forename: L
authors.initials: L
authors.lastname: Culpi
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005260:Female; D018740:Genetic Heterogeneity; D006579:Heterozygote; D006801:Humans; D007223:Infant; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D044465:White People / Q000235:genetics