Naghavi A, Mozdarani H, Garshasbi M, Yaghmaei M
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Department of Obstetrics and Gynecology, Faculty of Medical Sciences, Shahid Beheshti University, Tehran, Iran.
J Med Life. 2015;8(Spec Iss 3):229-232.
One of the notable enzymes in the metabolism of folate is Methylenetetrahydrofolate reductase enzyme, this enzyme is necessary for some biological mechanisms. Mutations in the MTHFR gene could reduce the enzyme activity. The objective of this research was to assess the prevalence of the very general polymorphism, C677T, in females with polycystic ovary syndrome in the southeastern of Iran. This research was a case-control research and was conducted on 112 PCOS women and 196 healthy controls. Single type nucleotide polymorphisms (SNP) were genotyped by employing the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). It noticed that in C677T, the pervasiveness of C/ C, C/ T, and T/ T genotypes was 54.5%, 34%, and 11.5%, respectively. The repetition of TT genotype was notably higher in PCOS women contrasted to controls. the appearance of 677T allele could be a danger agent for PCOS susceptibility in the southeast of Iran.
叶酸代谢中一种值得注意的酶是亚甲基四氢叶酸还原酶，这种酶对于某些生物学机制是必需的。MTHFR基因的突变可能会降低该酶的活性。本研究的目的是评估伊朗东南部多囊卵巢综合征女性中非常常见的C677T多态性的患病率。本研究为病例对照研究，对112名多囊卵巢综合征女性和196名健康对照进行了研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对单核苷酸多态性（SNP）进行基因分型。结果发现，在C677T中，C/C、C/T和T/T基因型的患病率分别为54.5%、34%和11.5%。与对照组相比，多囊卵巢综合征女性中TT基因型的重复率明显更高。677T等位基因的出现可能是伊朗东南部多囊卵巢综合征易感性的一个危险因素。
