<p>Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities Human Genetics مجلة Springer Berlin / Heidelberg الناشر (Print) 1432-1203 (Online) 6717-0340 (الرقم الدولي الموحد للدورية(ردمد يوليو, Volume 100, Number 2 / 1997 العدد Original investigation فئة DOI 10.1007/s004390050505 283-279 :الصفحات علوم الطب البيولوجي والعلوم الحياتية Subject Collection يوليو, SpringerLink 09 1997 تاريخ</p><p>Marie Desgeorges2, André Mégarbané3, Caroline Guittard2, Soukeyna Carles2, Jacques Loiselet3, Jacques Demaille2 and M. Claustres1</p><p>(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: [email protected], 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</p><p>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. </p><p>Received: 2 January 1997 / Accepted: 16 March 1997</p>