Author(s): Desgeorges M, Mgarban A, Guittard C, Carles S, Loiselet J,
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Abstract Cystic fibrosis (CF) is thought to be rare among the Arab populations from the Middle East and little data have been reported so far. We have studied a sample of 20 families living in Lebanon for several generations and who have at least one child with CF. These families are mainly from the Maronite, Greek Catholic, Greek Orthodox. Shiite or Sunnite groups. We found a 50\% rate of consanguineous marriage, independent of the community of origin. The distribution of CF genotypes was determined through the screening of all exons of the CFTR (cystic fibrosis transmembrane conductance regulator) gene by the technique of denaturing gradient gel electrophoresis combined with asymmetric amplification DNA sequencing. A total of ten different mutations accounting for 87.5\% of 32 unrelated CF alleles was identified, including two novel putative mutations (E672del and IVS21-28G-->A). Three mutations, delta F508 (37.5\%), W1282X (15.6\%), and N1303K (9.4\%) accounted for 62.5\% of CF alleles. Interestingly, in the Maronite group, 66.7\% of the delta F508 chromosomes were found to be associated with allele 7 of the IVS8(T)tract, contrasting with the absolute linkage disequilibrium between European delta F508 chromosomes and allele 9. During this study, two previously undescribed polymorphisms (IVS14a + 17del5 and 2691T/C) were also identified.
This article was published in Hum Genet
and referenced in Journal of Molecular Biomarkers & Diagnosis