Evaluation of common mutations in β-thalassemia patients in Iranian populations using SNaPshot method
| Autor: | Mehrzad S, Keshtmand Z |
|---|---|
| Jazyk: | perština |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Fiyz̤, Vol 24, Iss 2, Pp 219-226 (2020) |
| Druh dokumentu: | article |
| ISSN: | 1029-7855 2008-9821 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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