The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran
| Autor: | Alihossein Saberi, Mohammad Hamid, Ladan Dawoody Nejad, Marziye Mohammadi-Anaei, Hamid Galehdari, Gholamreza Shariati |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Short Communication Clinical Biochemistry Iran Gene mutation Biology medicine.disease_cause Compound heterozygosity General Biochemistry Genetics and Molecular Biology DNA sequencing 03 medical and health sciences 0302 clinical medicine Gene duplication Fetal hemoglobin medicine Multiplex ligation-dependent probe amplification Red blood cell indices Genetics Mutation medicine.diagnostic_test Biochemistry (medical) β-globin gene mutation 030104 developmental biology 030220 oncology & carcinogenesis β-thalassemia |
| Zdroj: | Iranian Biomedical Journal |
| ISSN: | 2008-823X 1028-852X |
| DOI: | 10.18869/acadpub.ibj.21.2.126 |
| Popis: | Background: β-thalassemia is one of the most widespread diseases in the world, including Iran. In this study, we reported, for the first time, a 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out according to the standard methods. Genomic DNA was obtained from peripheral blood cells by salting out procedures. β-globin gene amplification, multiplex ligation-dependent probe amplification (MLPA), and DNA sequencing were performed. Results: The PCR followed by sequencing and MLPA test of the β-globin gene confirmed the presence of a 290-bp deletion in the heterozygous form, along with -88C>A mutation. All the individuals had elevated hemoglobin A2 and normal fetal hemoglobin levels. Conclusions: This mutation causes β0-thalassemia and can be highly useful for prenatal diagnosis in compound heterozygous condition with different β-globin gene mutations. |
| Databáze: | OpenAIRE |
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