Article
Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families.
Human heredity - 1 Jan 2000
Collazo T, Magarino C, Chavez R, Suardiaz B, Gispert S, Gomez M, Rojo M, Heredero L
Abstract excerpt
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...
Topics
- Cuba
- Cystic Fibrosis
- Genetic Linkage
- Haplotypes
- Humans
- Mutation