Article
Preliminary study of haplotypes linked to the rare cystic fibrosis E1104X mutation.
Acta physiologica Hungarica - 1 Mar 2015
Oueslati S, Hadj Fredj S, Belhaj R, Siala H, Bibi A, Messaoud Taieb
Abstract excerpt
The analysis of some extra- and intragenic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of cystic fibrosis (CF) is highly heterogeneous in our population, the study of haplotype association with normal and CF chromosomes could be very helpful in cases where one or...
Topics
- Child, Preschool
- Cystic Fibrosis
- Female
- Genetic Markers
- Genetic Predisposition to Disease
- Haplotypes
- Humans
- Infant
- Male
- Mutation
- Pilot Projects
- Polymorphism, Single Nucleotide
- Prevalence
- Tunisia