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Haplotypes associated with the cystic fibrosis gene (CF)

Ferec, C.

Journal de Genetique Humaine 36(5): 413-424

1988

ISSN/ISBN: 0021-7743
PMID: 2905729
Document Number: 321980
The linkage relationships between the cystic fibrosis locus and six marker loci allowed us to build 122 haplotypes bearing the CF gene and to compare them to the 122 normal haplotypes. We obtained 13 different marker haplotypes associated with the CF chromosomes and 22 with the normals in our population. To examine the possibility of a correlation between the clinical and the genetical polymorphism of the disease haplotype analysis was carried out taking in account age at diagnosis, severity of the disease and a particular clinical subgroup such as meconium ileus or pancreatic sufficiency. The results showed that a particular haplotype (121) is predominant in the severe form of the disease. This may have implication in diagnosis and prognosis of the disease.

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