摘要
目的探讨同型半胱氨酸代谢酶—甲基四氢叶酸还原酶(MTHFR)、蛋氨酸合成酶(MS)和胱硫醚-β合成酶(CBβS)基因多态性在妊娠高血压综合征(妊高征)发病中的作用地位。方法荧光偏振免疫分析法测定血浆总Hcy浓度;聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)检测MTHFRC677T、MSA2756G、MTRRA66G和CBβS844ins68基因多态性。结果病例组MTHFRC677TC/T基因型频率显著高于正常对照组,总的突变T等位基因频率显著高于对照组(P<0.05);病例组MS野生型A等位基因频率明显高于对照组,而突变型G等位基因频率显著低于对照组。结论MTHFRC677T基因突变是妊高征发生的遗传风险因素;MSA2756多态性改变是妊高征的保护因子。二者均可作为妊高征预后的检测指标。
Objective： To study the significance of gene mutation of 5, 10 -methyleneterahydrofolate reductase, Methionine synthase, Cystathionine beta - synthase in patients with pregnancy - induced hypertension. Methods ： Hcy concentration was determined by fluorescence polarization immunoassay （FPIA）. MTHFR C677T, MTRR A66G, MS A2756G and CBβS 844ins68 gene polymorphisms were detected by the technique of polymerase chain reaction - restriction fragment length polymorphism （ PCR - RFLP）. Results： In the patients with pregnancy -induced hypertension, the total mutant T allele frequency of MTHFR gene was significantly higher than that in control group, where as the total mutant G allele frequency of MS gene was lower than that in control group. Conclusion： The study elucidates that MTHFR C677T and methionine synthase A2756G are informative polymorphic markers for diagnosis and management of pregnancy - induced hypertension. However, the mutation rate of CBβS 844ins68 and MTRR A66G are not suitable for screening the disease.
出处
《中国优生与遗传杂志》
2006年第4期15-17,共3页
Chinese Journal of Birth Health & Heredity
