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Volume 10, Issue 38 (3-2002)
J Adv Med Biomed Res 2002, 10(38): 26-31 |
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Mortazavi Y, Ardestani M, Pourfathollah A. Molecular Characterization Of Mediterranean Type Of Mutation Amongst G6pd Deficient Individuals In Tehran. J Adv Med Biomed Res 2002; 10 (38) :26-31
URL: http://journal.zums.ac.ir/article-1-419-en.html
URL: http://journal.zums.ac.ir/article-1-419-en.html
Abstract: (149464 Views)
| Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzymopathies affecting about 400 million people world-wide. Using biochemical methods, many different types of G6PD enzyme have been reported from all over the world. Due to difficulty in identifying the G6PD variants using biochemical methods, we used molecular techniques to study mediterranean mutation in G6PD deficient individuals who referred to clinics in Tehran. Materials and Methods: This is a descriptive study which was carried out on 64 cases deficient in G6PD screened by fluorescent spot test. DNA was extracted from peripheral blood and PCR (Polymerase Chain Reaction) amplified using specific primers followed by MboII digestion. Results: This investigation was carried out on 64 individuals comprised of 58 males and 6 females less than 16 years old. Mediterranean types of mutation were found in 47(73.4%) cases. The frequency in males and females were 74.1% and 66.7% respectively. Seventeen (26.6%) cases had non-mediterranean types of mutation. Conclusion: Our results are compatible with those reported from neighboring countries. Characterization of unknown mutations is highly recommended. |
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Type of Study: Original Research Article |
Received: 2008/11/10 | Accepted: 2002/03/15 | Published: 2002/03/15
Received: 2008/11/10 | Accepted: 2002/03/15 | Published: 2002/03/15
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