Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient

نویسندگان

  • Ali Banihashemi
  • Mandana Azizi
  • Reza Youssefi Kamangari
چکیده مقاله:

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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identification of a rare synonymous beta globin mutation, hbb:c.180g>a codon 59 (g>a) in an iranian patient

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 o...

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عنوان ژورنال

دوره 1  شماره 4

صفحات  164- 166

تاریخ انتشار 2015-12

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