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:: Volume 24, Issue 2 (Bimonthly 2020) ::
Feyz Med Sci J 2020, 24(2): 219-226 Back to browse issues page
Evaluation of common mutations in β-thalassemia patients in Iranian populations using SNaPshot method
Sepideh Mehrzad , Zahra Keshtmand *
Department of Biology, Central Tehran Branch, Islamic Azad University, Tehran, I.R. Iran. , zkeshtmand2001@gmail.com
Abstract:   (1824 Views)
Background: Beta-thalassemia, with over 2 million carriers of β-thalassemia, is one of the most common genetic diseases in Iran. Identification of beta-globin gene mutations is necessary for a specific diagnostic and management program, such as prepartum diagnosis of β-thalassemia. This study aimed to investigate common mutations in β-thalassemia patients in Iranian populations using the SNaPshot method.
Material and Methods: In this descriptive study, 10 cc venous blood sample with EDTA were collected from 20 patients of medical genetics laboratory in Tehran and Ahvaz who were identified in the marriage-screening plan and after obtaining written consent and completing the questionnaire. Then, DNA was extracted by boiling method and SNaPshot method was used to determine mutations. Finally, data were analyzed with geen maper software.
Result: In this study, frequency of common beta-thalassemia mutations showed that IVS II-1/30% was the most common mutation of Fsc8-9 (20%), Fsc36-37 (15%), IVS I -5 (10%) and IVS II mutations (5%).
Conclusion: The results of the study indicate that the difference in prevalence between the present study and other studies could be due to the scattered statistical population and fewer samples taken because this study focuses more on the efficacy of SNaPshot technique in diagnosis.
Keywords: Thalassemia, SNaPshot, Beta-globin gene
Full-Text [PDF 456 kb]   (741 Downloads)    
Type of Study: Research | Subject: medicine, paraclinic
Received: 2019/07/15 | Revised: 2020/07/11 | Accepted: 2020/05/5 | Published: 2020/04/29
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Mehrzad S, Keshtmand Z. Evaluation of common mutations in β-thalassemia patients in Iranian populations using SNaPshot method. Feyz Med Sci J 2020; 24 (2) :219-226
URL: http://feyz.kaums.ac.ir/article-1-3927-en.html


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Volume 24, Issue 2 (Bimonthly 2020) Back to browse issues page
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