fa بررسی مولکولی جهش مدیترانه ای در مبتلایان به کمبود آنزیم G6PD مقاله پژوهشی Original Research Article <table border="0" cellpadding="0" cellspacing="0"> <tbody> <tr> <td colspan="2" style="text-align: justify;"><span style="color:#ffffff;"><span style="font-size:18px;"><span style="font-family:Times New Roman;"><strong><span style="background-color:#16a085;">Background:</span></strong></span></span></span><span style="font-size:16px;"><span style="font-family:Times New Roman;"> 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.</span></span><br> <strong><span style="font-size:18px;"><span style="font-family:Times New Roman;"><span style="color:#ffffff;"><span style="background-color:#16a085;">Materials and Methods:</span></span></span></span></strong><span style="font-size:16px;"><span style="font-family:Times New Roman;"> 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.</span></span><br> <strong><span style="font-size:18px;"><span style="font-family:Times New Roman;"><span style="color:#ffffff;"><span style="background-color:#16a085;">Results:</span></span></span></span></strong><span style="font-size:16px;"><span style="font-family:Times New Roman;"> 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.<br> <span style="color:#ffffff;"><span style="background-color:#16a085;">Conclusion:</span></span> Our results are compatible with those reported from neighboring countries. Characterization of unknown mutations is highly recommended.</span></span></td> </tr> <tr> <td colspan="2" style="text-align: justify;"></td> </tr> </tbody> </table> <div style="text-align: justify;"></div> MEDITERRANEAN MUTATION, G6PD DEFICIENCY, POLYMERASE CHAIN REACTION 26 31 http://journal.zums.ac.ir/browse.php?a_code=A-10-4-169&slc_lang=fa&sid=1 Yousef Mortazavi یوسف مرتضوی 5200319475328460069900 5200319475328460069900 Yes Majid Ardestani مجید ترماحی اردستانی 5200319475328460069901 5200319475328460069901 No Aliakbar Pourfathollah علی اکبر پور فتح الله 5200319475328460069902 5200319475328460069902 No