Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families.
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.
Collazo
T
T
National Center of Medical Genetics, Higher Institute of Medical Sciences of Havana, Cuba.
Magarino
C
C
Chavez
R
R
Suardiaz
B
B
Gispert
S
S
Gomez
M
M
Rojo
M
M
Heredero
L
L
D003462:Cuba; D003550:Cystic Fibrosis / Q000235:genetics*; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D009154:Mutation