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目的探讨孕母MT2A-5A/G多态性与子代先天性心脏病的相关性。方法采用1∶1配对设计,在孕16-24周通过胎儿超声心动检查募集孕育先天性心脏病胎儿孕母和无畸形胎儿孕母各174例,检测孕母MT2A-5A/G多态性、全血锌、血清MT。结果病例组AG基因型所占比例(28.73%)高于对照组(18.97%),差异有统计学意义(χ2=4.572,P=0.032);全血锌浓度病例组低于对照组,血清MT活力病例组低于对照组,差异有统计学意义,(t=2.86,P=0.004;t=9.48,P<0.001);病例组AA基因型的全血锌浓度高于AG基因型(t=2.848,P=0.005);MT活性两个基因型之间有明显差异(t=1.924,P=0.0056);对照组AA基因型全血锌浓度、MT活性高于AG基因型(t=1.986,P=0.048;t=2.62,P=0.0011)。结论孕母MT-2A-5A/G基因型可能锌浓度、氧化压力,继而影响出生结局,可能是先天性心脏病的危险因素。其具体机制需通过进一步研究证实。
Objective To investigate the relationship between MT2A-5A / G polymorphism in pregnant women and congenital heart disease in offsprings. Methods A 1: 1 paired design was used to detect 174 pregnant and non-deformed fetal mothers with congenital heart disease by fetal echocardiography at 16-24 weeks gestation. MT2A-5A / G polymorphism was detected in pregnant women. Whole blood zinc, serum MT. Results The proportion of AG genotype in case group (28.73%) was higher than that in control group (18.97%), the difference was statistically significant (χ2 = 4.572, P = 0.032) (T = 2.86, P = 0.004; t = 9.48, P <0.001). The AA genotype had a higher level of Zinc in whole blood than that in AG genotype (t = 2.848, P = 0.005). There was a significant difference in MT activity between the two genotypes (t = 1.924, P = 0.0056) P = 0.048; t = 2.62, P = 0.0011). Conclusion The genotype of MT-2A-5A / G in pregnant women may affect the zinc concentration and oxidative stress, which may affect the outcome of birth and may be a risk factor for congenital heart disease. The specific mechanism to be confirmed by further research.