Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities |
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Authors: | Marie Desgeorges André Mégarbané Caroline Guittard Soukeyna Carles Jacques Loiselet Jacques Demaille M Claustres |
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Institution: | (1) Laboratoire de Biochimie Génétique, Institut de Biologie, 4, Boulevard Henri IV, F-34060 Montpellier, France Tel.: + 33 67 60 95 06; Fax: + 33 67 60 11 81; e-mail: claustre@vega.crbm.cnrs-mop.fr, FR;(2) Laboratoire de Biochimie Génétique, Centre Hospitalo-Universitaire, CNRS UPR 9008, Institut de Biologie, F-34000 Montpellier, France, FR;(3) Laboratoire de Biochimie Génétique, Faculté de Médecine, Université St-Joseph, Beyrouth, Lebanon, LB |
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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, ΔF508 (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 ΔF508 chromosomes were found to be associated with allele 7 of the IVS8(T)tract, contrasting
with the absolute linkage disequilibrium between European ΔF508 chromosomes and allele 9. During this study, two previously
undescribed polymorphisms (IVS14a + 17del5 and 2691T/C) were also identified.
Received: 2 January 1997 / Accepted: 16 March 1997 |
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