:: دوره 1، شماره 4 - ( 9-1394 ) ::
جلد 1 شماره 4 صفحات 166-164 برگشت به فهرست نسخه ها
Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient
چکیده:   (8490 مشاهده)

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.

     
نوع مطالعه: Case Report | موضوع مقاله: Genetics & Disease
دریافت: 1395/4/17 | پذیرش: 1395/4/19 | انتشار: 1395/5/27


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دوره 1، شماره 4 - ( 9-1394 ) برگشت به فهرست نسخه ها