FREQUENCY OF DELTA-F508 MUTATION AND XV2C KM19 HAPLOTYPES IN CUBAN CYSTIC-FIBROSIS FAMILIES/

Authors
COLLAZO T MAGARINO C CHAVEZ R SUARDIAZ B GISPERT S GOMEZ M ROJO M HEREDERO L
Citation
T. Collazo et al., FREQUENCY OF DELTA-F508 MUTATION AND XV2C KM19 HAPLOTYPES IN CUBAN CYSTIC-FIBROSIS FAMILIES/, Human heredity, 45(1), 1995, pp. 55-57
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
Human heredity → ACNP
ISSN journal
00015652
Volume
45
Issue
1
Year of publication
1995
Pages
55 - 57
Database
ISI
SICI code
0001-5652(1995)45:1<55:FODMAX>2.0.ZU;2-0
Abstract
We tested the frequency of the Delta F508 mutation and haplotypes link ed to the cystic fibrosis (CF) gene in Cuba. The Delta F508 deletion w as detected in 34.0% of the CF chromosomes. There was a shortage of De lta 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 chromosome s) against 13.5% of non-CF chromosomes,