ABCMdb

PMID: 9254864

Desgeorges M, Megarbane A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.
Hum Genet. 1997 Aug;100(2):279-83., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys Three mutations, ∆F508 (37.5%), W1282X (15.6%), and N1303K (9.4%) accounted for 62.5% of CF alleles. Login to comment 32 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys Distribution of CFTR mutations A total of ten different CFTR mutants accounting for 87.5% of independent CF alleles was identified, among them three mutations that are common in Caucasian populations, ∆F508 (37.5%), W1282X (15.6%), and N1303K (9.4%), accounted for 62.5% of alleles (Table 1). Login to comment 50 ABCC7 p.Trp1282* Although the numbers of chromosomes were insufficient for definite conclusion, we noted that the most common CF mutations (W1282X, ∆F508) shared an identical haplotype background among the different communities. Login to comment 61 ABCC7 p.Trp1282* W1282X was the second most frequent mutation in our sample; it accounts for 60% of CF alleles in Ashkenazim Jews (Shoshani et al. 1994) but is rare in other, non-Jewish different patient groups (1.2% worldwide; The Cystic Fibrosis Genetic Analysis Consortium 1994). Login to comment 62 ABCC7 p.Trp1282* In our sample of Arab chromosomes, all mutants W1282X were found to be associated with the same haplotype in Maronites, Greeks or Shi- ites, suggesting that they may all be derived from the same origin. Login to comment