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OALib Journal期刊
ISSN: 2333-9721
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Detection of Rare and Unknown Mutations in - tathalassemia Traits in Iran

Keywords: Beta-thalassemia , Unknown mutations

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Abstract:

Beta-thalassemia, by its high frequency and heterogenecity, constitues a real problem of health in Iran. Aboute 13 beta globin mutations encompass 70-90% of mutations spectrum in Iran, the rest are rare or unknown. In this study six mutations of the codon IVSI-130(G-C), Fr16 (-C), codon35 (-C), fr23/24(-G), codon8 (+G) and codon 20 (GTG-GAG) were recognized and added to spectrom of beta globin mutations in Iran, Using ARMS/PCR and DNA sequencing. Three latter cases are reported for first time.

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