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Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   JULY 2014 , Volume 17 , Number 7; Page(s) 475 To 476.
 
Paper: 

A NOVEL ALPHA-THALASSEMIA NONSENSE MUTATION IN HBA2: C.382 A>T GLOBIN GENE

 
 
Author(s):  HAMID MOHAMMAD, BOKHARAEI MERCI HANIEH, GALEHDARI HAMID, SABERI ALI HOSSEIN, KAIKHAEI BIJAN, MOHAMMADI ANAEI MARZIYE, AHMADZADEH AHMAD, SHARIATI GHOLAMREZA*
 
* NARGES MEDICAL GENETICS & PND LABORATORY, NO. 18, EAST MIHAN AVE, KIANPARS, AHVAZ, IRAN
 
Abstract: 

In this study, a new alpha globin gene mutation on the a2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female). DNA sequencing revealed this mutation in unrelated persons in Khuzestan province, Southwestern Iran of Lor ethnicity. This mutation caused no severe hematological abnormalities in the carriers. From the nature of substituted residues in a2-globin, it is widely expected that this mutation leads to unstable and truncated protein and should be detected in couples at risk for ?-thalassemia.

 
Keyword(s): IRAN, α-GLOBIN GENE MUTATION, α- THALASSEMIA
 
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