Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient
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Haleh Akhavan-Niaki *1 , Reza Youssefi Kamangari , Ali Banihashemi , Mandana Azizi  |
1- , halehakhavan@yahoo.com |
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Abstract: (9035 Views) |
Beta thalassemia is the most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 of the beta globin gene. The haplotype combination of 2 restriction enzyme sites in beta globin cluster was determined for this mutation. To our knowledge, this is the first article reporting a synonymous mutation at codon 59 (G>A) among the Iranian population highlighting once again the high heterogeneity of this population. |
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Keywords: Beta globin, HBB: c.180G>A mutation, Iran |
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Full-Text [PDF 1707 kb]
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Type of Study: Case Report |
Subject:
Genetics & Disease Received: 2016/07/07 | Accepted: 2016/07/09 | Published: 2016/08/17
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