title: Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families.
abstract: We tested the frequency of the delta F508 mutation and haplotypes linked to the cystic fibrosis (CF) gene in Cuba. The delta F508 deletion was detected in 34.0% of the CF chromosomes. There was a shortage of delta F508 heterozygotes, suggesting non-randomness in mating patterns. Haplotype B (XV2C/KM19 1/2) was found on 40.5% of the CF chromosomes (71.5% of delta F508 chromosomes, 28.3% of non-delta F508 CF chromosomes) against 13.5% of non-CF chromosomes.
authors.affiliation: National Center of Medical Genetics, Higher Institute of Medical Sciences of Havana, Cuba.
authors.forename: T
authors.initials: T
authors.lastname: Collazo
authors.forename: C
authors.initials: C
authors.lastname: Magarino
authors.forename: R
authors.initials: R
authors.lastname: Chavez
authors.forename: B
authors.initials: B
authors.lastname: Suardiaz
authors.forename: S
authors.initials: S
authors.lastname: Gispert
authors.forename: M
authors.initials: M
authors.lastname: Gomez
authors.forename: M
authors.initials: M
authors.lastname: Rojo
authors.forename: L
authors.initials: L
authors.lastname: Heredero
mesh_terms: D003462:Cuba; D003550:Cystic Fibrosis / Q000235:genetics*; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D009154:Mutation