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  • Title: Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families.
    Author: Collazo T, Magarino C, Chavez R, Suardiaz B, Gispert S, Gomez M, Rojo M, Heredero L.
    Journal: Hum Hered; 1995; 45(1):55-7. PubMed ID: 7896301.
    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.
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