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Information Journal Paper

Title

Molecular Identification of G6PD Chatham (1003 G>A) in North-West Iran

Pages

  27-34

Keywords

Glucose 6-phosphate dehydrogenase (G6PD) 

Abstract

 Background and objective: Glucose 6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human diseases with approximately 400 million people affected worldwide. G6PD Chatham is caused by 1003 G>A mutation leads to a severe enzymatic deficiency. The aim of the present study is to investigate the frequency rate of the Chatham mutations in the population of the North-West of Iran. Material And Method: In this study, by Rapid Genomic DNA Extraction (RGDE) method, from 90 peripheral blood samples of unrelated male and female patients with genetic deficiency of G6PD, DNA was extracted and after digestion by Bstx1 enzymes, in order to search for Chatham mutation, they were analyzed by means of PCR-RFLP and Sequencing methods. Result: According to the results, Chatham mutation was observed in 10 samples (11. 11%). Conclusion: This study showed that G6PD Chatham (1003 G>A) mutation is the second common mutation, after Mediterranean (563C>T), in the population of the North-West of Iran. Further studies are recommended to identify the mutation type of other varieties.

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    Cite

    APA: Copy

    ONSORI, HABIB, Poladi, Davood, VALIZADEH, MEHDI, FATHI, AFSHIN, Damandan, Mahshid, & Moradpour, Rouhallah. (2020). Molecular Identification of G6PD Chatham (1003 G>A) in North-West Iran. JORJANI BIOMEDICINE JOURNAL, 8(3), 27-34. SID. https://sid.ir/paper/760625/en

    Vancouver: Copy

    ONSORI HABIB, Poladi Davood, VALIZADEH MEHDI, FATHI AFSHIN, Damandan Mahshid, Moradpour Rouhallah. Molecular Identification of G6PD Chatham (1003 G>A) in North-West Iran. JORJANI BIOMEDICINE JOURNAL[Internet]. 2020;8(3):27-34. Available from: https://sid.ir/paper/760625/en

    IEEE: Copy

    HABIB ONSORI, Davood Poladi, MEHDI VALIZADEH, AFSHIN FATHI, Mahshid Damandan, and Rouhallah Moradpour, “Molecular Identification of G6PD Chatham (1003 G>A) in North-West Iran,” JORJANI BIOMEDICINE JOURNAL, vol. 8, no. 3, pp. 27–34, 2020, [Online]. Available: https://sid.ir/paper/760625/en

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