title: Molecular characterization of beta-thalassemia in the United Arab Emirates.
abstract: This study is to identify the various beta-thalassemic alleles in the United Arab Emirates (UAE), and compare them with the UAE residents from neighboring countries suffering from the same problem. Gene amplification, dot-blot hybridization with synthetic probes, restriction enzyme analyses, and sequencing were the tools used. Thirteen different mutations were observed in the UAE patients and seventeen mutations in the non-locals. The IVS-I-5 (G-->C) Asian Indian mutation was the most frequent mutation in both groups. Homozygous mutations in both groups were relatively higher than double heterozygous mutations.
authors.affiliation: Department of Pediatrics and Genetics, Al Wasl Maternity and Pediatric Hospital Dubai, United Arab Emirates.
authors.forename: S
authors.initials: S
authors.lastname: el-Kalla
authors.forename: A R
authors.initials: AR
authors.lastname: Mathews
mesh_terms: D000293:Adolescent; D000328:Adult; D000352:Africa, Northern / Q000208:ethnology; D000483:Alleles; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis / Q000379:methods; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India / Q000208:ethnology; D007223:Infant; D007492:Iran / Q000208:ethnology; D008969:Molecular Sequence Data; D010154:Pakistan / Q000208:ethnology; D017354:Point Mutation; D017384:Sequence Deletion; D014479:United Arab Emirates / Q000453:epidemiology; D017086:beta-Thalassemia / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*
chemical_list: D005914:Globins