[Frequency of TNFalpha-244GA, TNFalpha-308GA and TNFalpha-238GA polymorphisms in healthy and malaria infected patients of Kerman and Hormozgan provinces]

Tumor necrosis factor-alpha [TNF alpha] is one of the key cytokines that affects on pathology of microbial infections. It is suggested that genetic susceptibility to severe form of malaria is associated with TNF alpha promoter polymorphisms. The aim of present study was to investigate frequency of -308 GaA, -244 GaA and -238 GaA polymorphism in 174 samples of Hormozgan and Kerman provinces. In case- control study, we investigated the prevalence of TNF alpha-244 GaA, TNFalpha-308GaA and TNFalpha-238 GaA polymorphism in 174 [154 healthy and 20 patients] individuals from Kerman and Hormozgan provinces of Iran. DNA extraction performed, and then PCR-RFLP was used to detect polymorphisms in -308, -244 and -238 loci. In these three regions, 82.2% of healthy samples showed GG genotype, 14.26% AG and 0.19% AA. All samples of patients showed GG genotype in these three regions. It seems that evolutionary effect of malaria causes increased genotypes which related with protection against malaria or reduction of risk of cerebral malaria and death, although, there was no association between frequency of these genotypes and protection against malaria

Study of glucose-6-phosphate dehydrogenese [G6PD] gene mutations in deficient patients of Fars and Esfahan provinces

Glucose-6-phosphate dehydrogenase [G6PD] deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The aim of this study was the molecular analysis of common G6PD mutations, including Mediterranean, Chatham, Cosenza and A-[G202A/A367G] in the patient with favism in Fars and Esfahan provinces. In this basic study, 96 non-relative patients with G6PD deficiency [34 from Fars and 62 from Esfahan province] were studied. Genomic DNA was analyzed by PCR-RFLP and product electrophoresis method for known mutations such as Mediterranean [C-T] nt, Chatham, Cosenza and A202 [G-A]/367 [A-G] mutation. Of 96 samples, 79 [82.3%] and 8 [8.3%] had G6PD Mediterranean and G6PD Chatham, respectively. None of the samples had Cosenza and A-[G202A/A367G] mutation. This study showed that G6PD Mediterranean is the most prevalent mutation in Iran

Polymorphism analysis of malaria susceptibility biomarkers in G6PD deficiency patients

Several studies suggested that some traits and polymorphisms in human genome such as G6PD deficiency and other genes have protective effects on susceptibility to malaria infection. In present study we investigated the prevalence of TNF alpha -244G -> A, TNF alpha -308G->A,TNF alpha -238G->A, NOS2-954G->C, MBL54G->A, MBL 57G->A, MBLIVS-I-5G->A polymorphisms and G6PD variants [Mediterranean, Chatham, Cosenza, A-[202,376] in 315 subjects with G6PD deficiency and 10 malaria patient. All the 315 subjects were selected from five provinces [Pars, Khuzestan, Esfahan, Yazd and Kerman] and screened by PCR-RFLP method. TheNOS2-954G->A consisted GG[40.31%], GC[53.01%], and CC[6.66%] where as TNF alpha -308 consisted GG[68.8%], AG[31.11%] contents. The TNF alpha -244 showed GG[94.60%], AG[5.39%] genotypes and the TNF alpha -238 had GG[92.69%], AG[6.66%], AA[0.63%] genotypes. The MBL54 polymorphism had GG[75.55%], AG [24.44%], AA[0.63%] genotypes. In MBL 57, had GG[95.23%], AG[4.76%], AA [0.63%] genotypes. The G6PD variants was indicated that Mediterranean mutation in Pars, Khuzestan, Esfahan, Yazd and Kerman provinces was 79.4%, 58%, 83/8%, 64% and 63% respectively and also, the Chatham mutation was 8.8%, 8% 4.5%,3.6% and 0% respectively. Analysis of other four mutations [Cosenza, Arures and A-202 and A-367] showed that none of them had those mutations. Our results suggested that genotypes which causes protection against malaria or reduction of risk for celebral malaria and death has the maximum prevalence in samples taken from the five provinces, but in the kolmogorov-smiranov test results, only NOS2-954G->C supported the theory of relation between these polymorphisms and protection against malaria