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1 材料与方法1·1 观察对象选择我院及哈尔滨市其他医院门诊曾生育过神经管畸形(NTD)患儿或有NTD家族史的早孕患者114例,筛选出孕妇亚甲基四氢叶酸还原酶(MTHFR)基因C677T突变者57例,其中纯和突变(V/V)34例,杂和突变(A/V)23例。57例孕妇中曾生育过一次NTD患儿者22例,生育两次以上NTD患儿者5例,有NTD家族史者30例。1·2 观察方法1·2·1 MTHFR检测:(1)DNA的提取:取静脉血
1 Materials and methods 1.1 The object of observation Select our hospital and other hospital clinics in Harbin have had children with neural tube defects (NTD) or family history of early pregnancy in patients with NTD 114 cases, screening of pregnant women, methylenetetrahydrofolate reduction There were 57 patients with MTHFR C677T mutation, including 34 cases of pure and mutation (V / V) and 23 cases of heterozygous mutation (A / V). Among 57 pregnant women, 22 had one child with NTD and one had two or more children with NTD and 30 had NTD family history. 1.2 Observation Methods 1.2.1 MTHFR detection: (1) DNA extraction: take venous blood