印度东部健康母亲MTR和MTRR基因多态性的遗传分析

Susanta Sadhukhan, Silpita Paul, B. Bankura, Dinesh Munian, Sudakshina Ghosh, M. Das
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引用次数: 1

摘要

摘要:MTR和MTRR基因的多态性变异可以影响叶酸代谢和同型半胱氨酸再甲基化过程,从而对神经管缺陷(Neural Tube Defects, NTD)产生重要影响。MTR和MTRR基因的SNP在一些人群中有报道,但在印度人群中从未被探索过。本研究首次对这些基因的rs1805087 (D919G/A2756G)和rs1801394 (I22M/A66G)在印度西孟加拉邦人群中的频率分布进行了研究。rs1085087和rs1801394的G等位基因频率分别为8%和47%。印度人群MTR rs1085087的G等位基因频率低于其他主要人群;例如,在欧洲(17%)、美洲(18%)、非洲(28%)和南亚(32%)人口中。MTRR rs1801394的G等位基因频率与欧洲和南亚人群相似(G=52%),但与非洲人群(25%)、东亚人群(26%)和美洲混血人群(28%)差异较大。这一发现可能有助于我们了解基因改变的模式,并为未来的早期发现和更好的预后制定单一筛查方案。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic analysis of MTR and MTRR gene polymorphisms in healthy mothers from Eastern part of India
http://dx.doi.org/10.21276/IJRDPL.22780238.2018.7(1).2896-2900 ABSTRACT: The polymorphic variation of MTR and MTRR genes can influence the folate metabolism and homeocysteine remethylation processes and consequently has strong impact on Neural Tube Defects (NTD). The SNP of MTR and MTRR genes has been reported in some populations, but in the Indian population has never been explored. This study is focused on the frequency distributions of rs1805087 (D919G/A2756G) and rs1801394 (I22M/A66G) of these genes in the West Bengal population, India for the first time. The G allele frequencies of rs1085087 and rs1801394 were 8% and 47% respectively. The G allele frequency of MTR rs1085087 in Indian population is less than the other major population; such as, in European (17%), American (18%), African (28%) and South Asian (32%) population. The G allele frequency of MTRR rs1801394 is quite like the European and south Asian population (G=52%) but greatly differs from African (25%), East Asian (26%) and mixed American (28%) population. This observation might help us to understand pattern of genetic alteration and development of single screening protocol for early detection and better prognosis in future.
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