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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin
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MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin

机译： MTRR 基因变异可能使印度裔唐氏综合症患者易患先天性心脏病

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Background Down syndrome (DS), also called as trisomy 21, is one of the most leading cause of intellectual disability. DS is associated with a number of phenotypes including Congenital Heart Disease (CHD), Leukemia, Alzheimer’s disease, Hirschsprung’s disease and others. DS affects about 1 in 700 live births. Objectives The study aims to investigate the association of MTRR ( Methionine synthase reductase ) gene polymorphisms (C524T and A66G) with the risk of CHD in DS patients. Methods PCR and PCR-RFLP methods were used for the genotyping of study samples and results were validated using Sanger’s sequencing. Results MTRR C524T and A66G were significantly associated with the increased risk of CHD in DS. We have also reported two novel polymorphisms, T19775C and 19778_19778delG, in DS with CHD cases with a frequency of 93% and 40%, respectively. These two polymorphisms were not found among DS without CHD group. Conclusion Results from this study indicate that the MTRR C524T and A66G polymorphisms influence the risk of the occurrence of CHD in DS patients of Indian Origin. This is the first report from India highlighting the potential association of MTRR C524T and A66G polymorphisms with CHD in DS. We are also the first one to report two novel polymorphisms, T19775C and 19778_19778delG in DS with CHD group. Hence these four polymorphisms can be used to evaluate the risk of CHD in DS patients.
机译：背景唐氏综合症（DS），也称为21三体性疾病，是导致智力障碍的最主要原因之一。 DS与许多表型有关，包括先天性心脏病（CHD），白血病，阿尔茨海默氏病，赫希普朗氏病等。 DS影响700个活产婴儿中的大约1个。目的本研究旨在探讨MTRR（甲硫氨酸合酶还原酶）基因多态性（C524T和A66G）与DS患者冠心病风险的关系。方法采用PCR和PCR-RFLP方法对研究样品进行基因分型，并使用Sanger测序验证了结果。结果MTRR C524T和A66G与DS中CHD风险增加显着相关。我们还报道了在患有CHD病例的DS中，两种新的多态性T19775C和19778_19778delG在频率上分别为93％和40％。在没有CHD组的DS中未发现这两个多态性。结论这项研究的结果表明，MTRR C524T和A66G多态性影响印度裔DS患者冠心病发生的风险。这是印度的第一份报告，着重指出了MTRR C524T和A66G多态性与DS中CHD的潜在联系。我们也是第一个在具有CHD的DS中报告两个新的多态性T19775C和19778_19778delG的人。因此，这四个多态性可用于评估DS患者的CHD风险。

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