蛋氨酸合成酶还原酶基因A66G多态性与Down综合征发生的相关研究

目的:研究蛋氨酸合成酶还原酶(MTRR)基因A66G多态性与Down综合征的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法对32例DS患儿母亲及70例未生育DS患儿女性MTRR的A66G进行基因分析。比较上述各组基因型和等位基因频率分布有无差异。结果:MTRR基因A66G突变型等位基因G频率在实验组和对照组中有显著性差异,GG基因型频率分布差异有显著性(P<0·05)。AG基因型比AA基因型生育DS患儿风险高1·98倍,GG基因型比AA基因型生育DS患儿风险高5·2倍。结论:MTRR A66G基因多态性与Down综合征发生相关,AG、GG基因型增加了Down综合征的发生风险。

Study on the Relationship Between Genetic Polymorphisms in the Methionine Synthase Reductase (MTRR) A66G and Development of Down Syndrome

Objective:To explore the relationship between genetic polymorphisms in methionine synthase reductase (MTRR), a central enzyme in folate metabolism,and the risk of Down syndrome.Methods:Genomic DNA was isolated from the peripheral lymphocytes of 32 mothers of children with Down syndrome and 70 age matched control subjects. Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTRR genes A66G and the relation between these genotypes and risk of Down syndrome was analyzed.Results:It was obvious difference between experiment and control group in MTRR gene A66G mutation allele (G) frequency (P<0.05), AA and GG had obvious difference(P<0.05).The individuals with 66AG genotype or 66GG genotype had a 198 fold or 52 fold increased risk of developing Down syndrome compared with those who had 66AA genotype.Conclusion:MTRR gene mutation allele is related to Down syndrome , GG、AG gene mutation type increased the risk of Down syndrome.