beta-thalassemia mutations and haplotype analysis in Lebanon

Citation
L. Zahed et al., beta-thalassemia mutations and haplotype analysis in Lebanon, HEMOGLOBIN, 24(4), 2000, pp. 269-276
Citations number
15
Categorie Soggetti
Biochemistry & Biophysics
Journal title
HEMOGLOBIN
ISSN journal
03630269 → ACNP
Volume
24
Issue
4
Year of publication
2000
Pages
269 - 276
Database
ISI
SICI code
0363-0269(2000)24:4<269:BMAHAI>2.0.ZU;2-O
Abstract
The molecular basis of beta -thalassemia in Lebanon reflects the heterogene ity of the Lebanese population, Eighteen different mutations were identifie d among a total of 277 chromosomes. There is evidence of clustering of some mutations in particular geographic regions or among specific religious gro ups. Haplotype analysis, using seven restriction sites was performed on a t otal of 110 samples and 11 different haplotypes were identified. The five m ost common mutations were each found on two different haplotypes, and most linkages were as previously reported in other Mediterranean populations, wi th a few exceptions, also showing some clustering.