河南省育龄女性叶酸利用能力现状研究

The study of folic acid usage in women of childbearing age in Henan province

目的了解河南省育龄女性叶酸利用现状，从而指导其在孕前及孕早期合理补充叶酸，避免由于叶酸代谢障碍导致的各种出生缺陷、自发性流产、妊娠期高血压疾病以及早产的发生，提高出生人口素质。方法采集1093例育龄女性口腔黏膜上皮细胞，进行荧光定量PCR-DNA测序，测定其5，10-亚甲基四氢叶酸还原酶（methylenetetrahydrofolatereductase，MTHFR）C677T、A1298C和甲硫氨酸合成酶还原酶（methioninesynthasereductase，MTRR）A66G位点的基因序列，根据该基因型对叶酸利用能力的影响，得出携带该基因型的女性是否有叶酸利用风险以及风险的等级。结果MTHFRC677T位点野生型CC占18．11％，纯合突变型r丌占36．78％，突变基因T的基因频率为59-33％；MTHFRA1298C位点野生型AA占73．01％，纯合突变型CC占2-38％，突变基因C的基因频率为14．68％；MTRRA66G位点野生型AA占57．09％，纯合突变型GG占6．31％，突变基因G的基因频率24．6l％；双杂合子677CT、1298AC占15-37％；MTHFR两位点与中国人群基因型和等位基因分布差异均有统计学意义（P均〈0．05），MTRR位点与中国人群基因型和等位基因分布差异均无有统计学意义（P均〉0．05）；叶酸利用能力遗传检测未发现风险的只占26．72％，而中、高度风险各占24．70％、38．97％。结论河南省育龄女性叶酸利用能力现状不容乐观，携带中高度风险基因的人群超过一半。

Objective To investigate the ability of using folic acid in women of childbearing age in Henan province, so as to guide their reasonable folic acid supplements before and during early pregnancy, and avoid a varety of birth defects, spontaneous abortion, hypertensive disorders in pregnancy and premature oc- currence caused by the folic acid metabolic disorder. Methods There were 1093 samples in this study. The o- ral mucosal epithelial cells of women of childbearing age were collected with brush. By the way of fluorescence quantitative PCR, DNA sequencing, the gene sequence of 5,10-methylenetetrahydrofolate reductase （MTH- FR） C677T and A1298C and methionine synthase reductase （MTRR） A66G locating were determined. Ac- cording to the affection of genetic risk based on the genotype of folic acid, the level of folic acid risk of the women who carry the genotype was draw. Results The accounting for 18.11% of the MTHFR C677T in point of the wild type CC, 36.78% of the homozygous mutant TY, mutant gene T frequency was 59.33% ; the MTH- FR A1298C point wild-type AA accounted for 73.01%, homozygous mutant CC accounted for 2.38 %, the fre- quency of gene mutations in the gene C was 14.68% ; accounted for 57.09% of the MTRR A66G point wild type AA, homozygous mutant GG accounted for 6.31% and 24.61% of the mutations in the gene G; double het- erozygous 677CT and 1298AC accounted for 15.37% ;There were statistical significance in the differences be- tween MTHFR two points and the Chinese population genotype and allele distribution （Pall〈 0.05 ）. There were no statistical significance in the differences between MTRR and Chinese population genotype and allele distri- bution （Pall〉 0.05）; The people who do not have the risk of using folic only accounting 26.72%, the risk of medium and high risk accounting for 24.70%, 38.97%. Conclusion The folic acid using ability of the status of childbearing age women in Henan province cannot be optimistic, women who bring medium and high risk gene cover more than half.