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Frequency of Delta-F508 Mutation and XV2C/KM19 Haplotypes in Cuban Cystic Fibrosis Families

 

作者: T. Collazo,   C. Magarino,   R. Chavez,   B. Suardiaz,   S. Gispert,   M. Gomez,   M. Rojo,   L. Heredero,  

 

期刊: Human Heredity  （Karger Available online 1995）
卷期: Volume 45, issue 1  

页码: 55-57

 

ISSN:0001-5652

 

年代: 1995

 

DOI:10.1159/000154256

 

出版商: S. Karger AG

 

关键词: Cystic fibrosis;Delta F508;Haplotype;RFLP

 

数据来源: Karger

 

摘要:

We tested the frequency of the ΔF508 mutation and haplotypes linked to the cystic fibrosis (CF) gene in Cuba. The ΔF508 deletion was detected in 34.0% of the CF chromosomes. There was a shortage of ΔF508 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 ΔF508 chromosomes, 28.3% of non-ΔF508 CF chromosomes) against 13.5% of non-CF chromos

 

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