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Molecular characterization of beta-thalassemia in the United Arab Emirates.

作者信息

el-Kalla S, Mathews A R

机构信息

Department of Pediatrics and Genetics, Al Wasl Maternity and Pediatric Hospital Dubai, United Arab Emirates.

出版信息

Hemoglobin. 1993 Aug;17(4):355-62. doi: 10.3109/03630269308997488.

DOI:10.3109/03630269308997488
PMID:8226095
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.

摘要

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