Title of article
A Novel Alpha-thalassemia Nonsense Mutation in HBA2: C.382 A T globin Gene
Author/Authors
Hamid, Mohammad Pasteur Institute of Iran - Biotechnology Research Center - Department of Molecular Medicine, ايران , Hamid, Mohammad Narges Medical Genetics PND Laboratory, ايران , Bokharaei Merci, Hanieh Pasteur Institute of Iran - Biotechnology Research Center - Department of Molecular Medicine, ايران , Galehdari, Hamid ahvaz jundishapur university of medical sciences - Faculty of Medicine - Department of Medical Genetic, اهواز, ايران , Saberi, Ali Hossein Narges Medical Genetics PND Laboratory, ايران , Saberi, Ali Hossein ahvaz jundishapur university of medical sciences - Faculty of Medicine - Department of Medical Genetic, اهواز, ايران , Kaikhaei, Bijan ahvaz jundishapur university of medical sciences - Research Centre of Thalassemia and Hemoglobinopathies, اهواز, ايران , Mohammadi-Anaei, Marziye Narges Medical Genetics PND Laboratory, ايران , Ahmadzadeh, Ahmad ahvaz jundishapur university of medical sciences - Health Research Institute, Research Centre of Thalassemia and Hemoglobinopathies, اهواز, ايران , Shariati, Gholamreza Narges Medical Genetics PND Laboratory, ايران , Shariati, Gholamreza ahvaz jundishapur university of medical sciences - Faculty of Medicine - Department of Medical Genetic, اهواز, ايران
From page
475
To page
476
Abstract
In this study a new alpha globin gene mutation on the α2 -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 car- riers. From the nature of substituted residues in α2 -globin, it is widely expected that this mutation leads to unstable and truncated protein and should be detected in couples at risk for α-thalassemia.
Keywords
Iran , a , globin gene mutation , a , thalassemia
Journal title
Archives of Iranian Medicine
Journal title
Archives of Iranian Medicine
Record number
2545375
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