MTHFR和CBS基因多态性与低出生体重的关系研究

目的探讨母亲亚甲基四氢叶酸还原酶（MTHFR）基因C677T、胱硫醚β-合酶（CBS）基因T833C与子代低出生体重发生之间的关系。方法运用聚合酶链反应（PCR）-限制性片段长度多态性与PCR-扩增阻滞突变体系技术分别检测母亲的MTHFR、CBS基因型，对MTHFR基因型、CBS基因型、基因型的交互作用与低出生体重的关系进行分析。结果MTHFR基因突变型、CBS基因突变型对低出生体重影响无统计学意义（P〉0．05），但MTHFR基因突变型与CBS基因突变型对低出生体重的影响存在交互作用（OR=3．155，95％CI：1．229—8．528）。结论母亲MTHFR基因C677T、CBS基因T833C，与子代低出生体重发生无关，但MTHFR基因突变型与CBS基因突变型存在交互作用，其能增加子代低出生体重发生的危险。

Association of low birth weight with genetic polymorphisms of MTHFR and CBS in mother

Objective： To explore low birth weight （LBW） in offspring in association with mother＇s Methylenetetrahydrofolate reductase （MTHFR） gene C677T and Cystathionine β- synthase （CBS） gene T833C. Methods： we identified mothers＇ genetic polymorphisms of MTHFR and CBS by PCR - RFLP and PCR - ARMS respectively. The relationship between LBW and MTHFR gene C677T, CBS gene T833C, synergism of genotypes were analysed. Results： Both genetic polymorphisms of MTHFR and CBS were not significantly associated with LBW （ P 〉 0. 05 ）, respectively, but there was the interaction in relation to LBW among MTHFR mutational genotype and CBS mutational genotype （OR = 3. 155, 95% CI： 1. 229 -8.528）. Conclusion： Both of MTHFR gene C677T and CBS gene T833C are not associated with LBW. It is suggested that there is synergism of MTHFR mutational genotype and CBS mutational genotype, which may cause LBW in offspring.