摘要
目的检测反复性自然流产(recurrent spontaneous abortion,RSA)≥2次患者亚甲基四氢叶酸还原酶(m eth-ylenetetrahydrofolate reductase,MTHFR)基因位点C677T的出现频率,分析其与RSA发生的可能关系。方法采用聚合酶链反应-限制性片段长度多态(PCR-RFLP)技术检测80例RSA患者和60例正常妇女MTHFR基因C677T位点的分布和频率。结果在MTHFR基因突变分型中,RSA组T/T型以及C/T+T/T型出现频率显著高于对照组。对照组C/C型频率显著高于患者组;单纯C/T型两组没有显著性差异。结论MTHFR基因位点突变以及部分HLA-DR基因位点与RSA发生有关。
Objective： The aim of this study was to investigate the prevalence of MTHFR C677T mutation in women with recurrent spontaneous abortions （ ≥2 abortions） in the Chinese population. Methods： MTHFR gene mutation were detected by the technique of polymerase chain reaction- restriction fragment length polymorphism （PCR- RFLP） in study group （ 80 cases） and control group （ 60 cases）. Results： The mutant T allele frequencies of were significantly higher than that in control group. C/C genotype in RSA group was significantly lower than that in control group. Conclusion： The results of the present study reveal relationship between the MTHFR gene mutation and recurrent spontaneous abortions.
出处
《中国优生与遗传杂志》
2007年第7期9-10,共2页
Chinese Journal of Birth Health & Heredity
基金
青岛科技局科研基金资助项目(02-2-KJ-yn-23-1.2)
关键词
反复性自然流产
MTHFR基因突变
Recurrent spontaneous abortion
Methylenetetrahydrofolate reductase gene mutation
