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育龄妇女增补叶酸是我国的一项基本国策,核心目的是为了预防神经管缺陷的发生。
目前,权威机构推荐临床孕妇营养代谢基因检测的关键酶。叶酸代谢过程的关键基因为MTRR(甲硫氨酸合成还原酶)、MTHFR(亚甲基四氢叶酸还原酶)、RFC(SLC19A1, 还原叶酸载体基因),钙代谢过程的关键基因为VDR(维生素D受体)或ESR(雌激素受体)
1. 叶酸代谢与关键酶基因型的关系及营养补充
叶酸代谢是主要受MTRR、MTHFR、SLC19A1三种酶基因型的影响。根据三种酶基因型的具体作用能力,可将叶酸代谢能力的遗传评价分成四类,如下图所示:
叶酸代谢能力的遗传评价
个体的叶酸相关基因型与遗传风险评估
2. 钙代谢与关键酶基因型的关系及营养补充
钙代谢是主要受ESR1与VDR两种酶基因型的影响。根据两种酶基因型的具体作用能力,可将钙代谢能力的遗传评价分成三类,如下图所示:
钙代谢遗传风险区间与计量补充
个体钙代谢基因型与遗传风险评估
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