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1 74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(1 8.97％),差异有统计学意义(x2=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);病例组从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=l.924,P=0.0056);对照组从基因型全血锌浓度、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.

目的:探讨孕妇锌水平与胎儿先天性心脏病的相关性及生化机制.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妇和无畸形胎儿孕妇各174例,检测孕妇全血锌、铜浓度和血清MT、Cu-Zn SOD活力.结果:病例组的全血锌浓度、血清MT和Cu-Zn SOD活力均低于对照组,两组全血铜浓度无差异.结论:孕妇锌缺乏是先天性心脏病的原因之一,提示孕妇锌缺乏时机体的抗氧化作用减弱,胚胎心脏畸形的发生增加.

目的 探讨子代发生先天性心脏病的孕母相关因素.方法 本研究为1∶2配对病例对照研究.从我省出生缺陷监测医院共募集分娩先天性心脏病患儿的产母203例作为病例,按照产母年龄、末次月经、居住地、围产儿性别配对条件募集分娩无出生缺陷儿的产母406例作为对照.采用单因素及多因素Logistic回归分析与子代发生先天性心脏病的孕母相关因素.结果 多因素条件Logistic回归分析结果显示妊娠糖尿病、妊娠高血压、妊娠早期发热、负性事件、被动吸烟、有害溶剂气味接触、噪音、孕前超重是子代发生先天性心脏病的危险因素,妊娠早期叶酸及含叶酸制剂补充、常吃鱼虾蟹贝、锌及含锌制剂补充是子代发生先天性心脏病的保护因素.结论 做好国产保健,减少妊娠糖尿病、高血压和孕早期发热,避免有害物质接触和改变不良行为习惯,孕早期补充叶酸、锌,常吃鱼虾蟹贝有利于降低子代先天性心脏病风险.

Aim To investigate the relationship between two functional polymorphisms: rs5718 at epithelial Na channel γsubunit (SCNN1G) gene and rs4149601 at neural precursor cell expressed developmentally down regulated 4-like (DEDD4L) gene and essential hypertension in Uyghur population. Methods A case-control study was performed in 344 hypertensive and 322 control subjects, which were randomly recruited from the rural area of Tulupan district. The body mass index (BMI) and waist hip ratio (WHR) was recorded. Fasting plasma glucose, triglyceride, and cholesterol were measured. The two polymorphisms were genotyped by Taqman technique. Results The essential hypertension and control groups were in Hardy-Weinberg equilibrium for both polymorphisms. The frequencies of GA, GG and A allele of rs5718 were 34.6%, 5.6% and 22.9% in hypertensives, respectively, which were 36.6%, 4.0% and 22.4% in controls. The frequencies of GA, GG and A allele of rs4149601 were 28.9%, 1.9% and 14.6% in hypertensives, which were 30.0%, 3.3% and 18.3% in controls, respectively. There were no significant differences of both genotype distribution and allele frequencies between hypertensive and control subjects in both polymorphisms, with or without adjusting for covariates age and gender in a logistic regression analysis. In further ANCOVA analysis, neither polymorphism was significantly associated with systolic blood pressure, diastolic blood pressure, BMI, WHR, glucose, triglyceride, and cholesterol levels. Conclusions Our observation did not support an association of the two functional polymorphisms (rs5718 and rs4149601) with essential hypertension in Uyghur population.