Trisomy 21 or Down syndrome (DS) is the most frequent genetic etiology of intellectual disability in humans. MDM2 gene expression has a potential role as a risk factor for human aneuploidy. -410T-G (rs2279744) functional polymorphism in MDM2 gene impacts on the mechanisms of chromosomal non-disjunction. We analyzed, within a case–control study, such polymorphism in mothers of subjects with DS. Nucleotide polymorphism was detected by pyrosequencing technology. The distribution of MDM2-410T-G polymorphism showed no significant difference among mothers of subjects with DS and controls. Our results suggest that MDM2 -410T-G polymorphism is not a risk factor for DS in mothers.

中文翻译：

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焦磷酸测序在唐氏综合症患者母亲中研究MDM2-410T-G多态性（rs2279744）。

21三体综合征或唐氏综合症（DS）是人类智力障碍最常见的遗传病因。MDM2基因表达可能是人类非整倍性的危险因素。MDM2基因中的-410T-G（rs2279744）功能多态性影响染色体不分离的机制。我们在病例对照研究中分析了DS患儿母亲的这种多态性。通过焦磷酸测序技术检测核苷酸多态性。MDM2 -410T-G多态性的分布在患有DS的受试者的母亲和对照组之间没有显示出显着差异。我们的结果表明，MDM2 -410T-G多态性不是母亲DS的危险因素。