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目的调查分析绍兴地区育龄妇女血浆同型半胱氨酸(Hcy)浓度及叶酸代谢基因分型情况。方法对绍兴地区25132例育龄妇女血浆Hcy浓度的进行检测,对检测到的同型半胱氨酸(Hcy)高于正常参考范围的妇女进行叶酸代谢通路4个关键酶的基因进行分型。结果绍兴地区育龄妇女血浆Hcy平均浓度为(8.0±3.81μmol/L),且随着年龄增长而升高。高龄组(>41岁)高Hcy血症(>15μmol/L)的检出率显著高于低年龄组(<21岁),P<0.05。结论绍兴地区育龄妇女血浆Hcy浓度总体保持在一个合理的水平。通过对高Hcy血症育龄妇女的叶酸代谢通路四个关键酶的基因检测分型,有利于全面掌握育龄妇女机体内叶酸代谢情况,为个性化补充叶酸提供科学依据,从而最大程度降低出生缺陷的发生。
Objective To investigate the plasma concentrations of homocysteine (Hcy) and folic acid metabolism genotyping in women of childbearing age in Shaoxing. Methods Plasma Hcy concentrations in 25,132 women of childbearing age in Shaoxing were detected. Four genes of folic acid metabolism pathways were detected in women with detected homocysteine (Hcy) higher than the normal reference range. Results The mean Hcy level of plasma in women of childbearing age in Shaoxing was (8.0 ± 3.81μmol / L), which increased with age. The detection rate of hyperhomocysteinemia (> 15μmol / L) in the elderly group (> 41 years old) was significantly higher than that in the lower age group (<21 years old), P <0.05. Conclusion The plasma Hcy levels in women of childbearing age in Shaoxing are generally maintained at a reasonable level. Through the detection and typing of the four key enzymes of folic acid metabolism pathways in women of childbearing age with high Hcy hyperlipidemia, it is helpful to fully understand the folic acid metabolism in women of childbearing age and provide scientific basis for personalized folic acid supplementation to minimize the birth defects occur.