Hum Genet 1997, 100:279-28
Desgeorges,Marie; Megarbane,Andre; Guittard,Caroline; Carles,Soukeyna; Loiselet,Jacques; Demaille,Jacques; Claustres,Mireille
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.