MOLECULAR CHARACTERIZATION OF BETA-THALASSEMIA IN THE UNITED-ARAB-EMIRATES

被引:15
作者
ELKALLA, S
MATHEWS, AR
机构
[1] Department of Pediatrics and Genetics, Al Wasl Maternity and Pediatric Hospital, Dubai
关键词
D O I
10.3109/03630269308997488
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:355 / 362
页数:8
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