Kumar P, Yadav U, Rai V
Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur-222003, Uttar Pradesh, India.
Cell Mol Biol (Noisy-le-grand). 2017 Jul 31;63(6):21-24. doi: 10.14715/cmb/2017.63.6.5.
Catechol-O-methyltransferase (COMT) is an abundant S-adenosylmethionine (SAM-)-dependent methyltransferase that methylates catechol compounds, including catecholamines and catecholestrogens.COMT gene located at chromosome 22q11.2 contains a functional polymorphism at codon 158(Val158Met), which has been related to psychiatric diseases and different types of cancer. COMT might affect tHcy levels because as a by-product it converts SAM to S-adenosylhomocysteine (SAH), which is reversibly converted to homocysteine. The aim of the present study was to determine the frequency of COMT Val158Met polymorphism in scheduled caste (SC) population of Jaunpur district. Total 100 healthy unrelated subjects belonging to SC, between the age group of 18 to70 years were randomly selected for the present study. 3 ml blood samples were collected from each subject. The inclusion criteria of subjects for present study are that they should be domicile of Uttar Pradesh, and healthy without any individual/ family history of genetic or metabolic disorders. COMT Val158Met polymorphism analysis was done by PCR-RFLP method. The Val/Val genotype was found in 48 subjects, Val/Met in 40 subjects and Met/Met genotype in 12 subjects. Genotype frequencies of Val/Val, Val/Met and Met/Met were 0.48, 0.40 and 0.12 respectively. The allele frequency of Val allele was found to be 0.68 and Met allele frequency was 0.32.
儿茶酚-O-甲基转移酶(COMT)是一种丰富的依赖S-腺苷甲硫氨酸(SAM)的甲基转移酶,可使包括儿茶酚胺和儿茶酚雌激素在内的儿茶酚化合物甲基化。位于22q11.2染色体上的COMT基因在第158密码子(Val158Met)处存在功能性多态性,这与精神疾病和不同类型的癌症有关。COMT可能会影响同型半胱氨酸(tHcy)水平,因为作为副产物,它会将SAM转化为S-腺苷同型半胱氨酸(SAH),而SAH可可逆地转化为同型半胱氨酸。本研究的目的是确定朱恩布尔地区特定种姓(SC)人群中COMT Val158Met多态性的频率。本研究随机选择了100名年龄在18至70岁之间、属于SC的健康无关个体。从每个受试者采集3毫升血液样本。本研究受试者的纳入标准是他们应为北方邦居民,且健康,无任何遗传或代谢疾病的个人/家族史。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法进行COMT Val158Met多态性分析。发现48名受试者为Val/Val基因型,40名受试者为Val/Met基因型,12名受试者为Met/Met基因型。Val/Val、Val/Met和Met/Met的基因型频率分别为0.48、0.40和0.12。发现Val等位基因的频率为0.68,Met等位基因频率为0.32。