Rai Vandana, Yadav Upendra, Kumar Pradeep, Yadav Sushil Kumar
Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, Uttar Pradesh, India.
Indian J Hum Genet. 2013 Apr;19(2):183-7. doi: 10.4103/0971-6866.116123.
Methionine synthase reductase (MTRR) is a vital enzyme of homocysteine/methionine metabolic pathway and is required for the conversion of inactive form of methionine synthase (MTR) to its active form. A clinically important allelic variant of MTRR A66G, with less enzymatic activity is reported with worldwide prevalence rate of ~ 30%. The present study was designed to determine the frequency of MTRR A66G polymorphism in rural Sunni Muslim population of Eastern Uttar Pradesh.
Total 56 subjects were analyzed for MTRR A66G polymorphism. A66G mutation analysis was carried out according to the polymerase chain reaction-restriction fragment length polymorphism method of Wilson et al. [1] amplification with MTRR specific primers followed by amplicon digestion with NdeI enzyme was used for the identification of different MTRR genotypes in subjects.
The AA genotype was found in 5 subjects, AG in 23 subjects, and GG genotype in 28 subjects. Genotype frequencies of AA, AG, and GG were 0.089, 0.41, and 0.5 respectively. The allele frequency of A allele was found to be 0.298 and G allele was 0.705.
It is evident from the present study that the percentage of homozygous genotype GG and frequency of G allele is high in the target Muslim population.
甲硫氨酸合酶还原酶(MTRR)是同型半胱氨酸/甲硫氨酸代谢途径中的一种重要酶,它是将无活性形式的甲硫氨酸合酶(MTR)转化为其活性形式所必需的。据报道,MTRR A66G这种具有临床重要意义的等位基因变异,其酶活性较低,在全球的流行率约为30%。本研究旨在确定印度北方邦东部农村逊尼派穆斯林人群中MTRR A66G多态性的频率。
共对56名受试者进行了MTRR A66G多态性分析。根据Wilson等人[1]的聚合酶链反应-限制性片段长度多态性方法进行A66G突变分析,使用MTRR特异性引物进行扩增,然后用NdeI酶对扩增产物进行消化,以鉴定受试者中不同的MTRR基因型。
发现5名受试者为AA基因型,23名受试者为AG基因型,28名受试者为GG基因型。AA、AG和GG的基因型频率分别为0.089、0.41和0.5。发现A等位基因的频率为0.298,G等位基因的频率为0.705。
从本研究可以明显看出,在目标穆斯林人群中,纯合基因型GG的百分比和G等位基因的频率较高。