Kaur Anupam, Kaur Amandeep
Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India.
Indian J Hum Genet. 2013 Oct;19(4):412-4. doi: 10.4103/0971-6866.124368.
The relationship between chromosomal non-disjunction leading to aneuploidy and folate metabolism has drawn attention in the recent years. In this study, we examined the polymorphism in the gene encoding the folate metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR), namely, 677 C-T in women having Down syndrome (DS) children.
The prevalence of these variant genotypes (MTHFR 677 C-T polymorphism) in women having DS children (case mothers) (n = 110) was compared with controls (n = 111) from Punjab. Genotyping was done using the polymerase chain reaction method followed by restriction fragment length polymorphism.
In the present study, 1.8% of case mothers had TT genotype while none of the control mothers showed this genotype. T allele frequency among cases was 0.13 and 0.11 in controls. The Chi-square value showed a non-significant difference between cases and controls.
No association has been observed between 677 C-T polymorphism and risk of non-disjunction in case mothers. Detection of polymorphisms in more genes of folate pathway is required to find out the exact cause of non-disjunction.
近年来，导致非整倍体的染色体不分离与叶酸代谢之间的关系受到了关注。在本研究中，我们检测了生育唐氏综合征（DS）患儿的女性中编码叶酸代谢酶亚甲基四氢叶酸还原酶（MTHFR）的基因多态性，即677 C-T。
将生育DS患儿的女性（病例母亲）（n = 110）中这些变异基因型（MTHFR 677 C-T多态性）的患病率与来自旁遮普邦的对照组（n = 111）进行比较。采用聚合酶链反应方法随后进行限制性片段长度多态性分析进行基因分型。
在本研究中，1.8%的病例母亲具有TT基因型，而对照母亲中没有显示出这种基因型。病例组中T等位基因频率为0.13，对照组为0.11。卡方值显示病例组和对照组之间无显著差异。
未观察到677 C-T多态性与病例母亲中非分离风险之间存在关联。需要检测叶酸途径中更多基因的多态性以找出非分离的确切原因。
