胎源性子宫内膜异位症易感基因HOXAHOXA1010异常甲基化中的作用.pdfVIP

·926 · doi 10.3969/j.issn. 1673-4254.2013.06.31 J South Med Univ, 2013, 33(6): 926-929 临床研究 叶酸在预防胎源性子宫内膜异位症易感基因叶酸在预防胎源性子宫内膜异位症易感基因HOXAHOXA1010 异常甲基异常甲基 化中的作化中的作用用 刘木彪，黄雪梅，许苏容，李 蕾 南方医科大学珠江医院妇产科，广东 广州 510282 摘要：目的通过检测和比较子宫内膜异位症（EMS）孕妇有无补充叶酸其女性胎儿脐血EMS 易感基因HOXA 10启动区CpG 岛 甲基化状态，探讨叶酸优化宫内环境的作用。方法 收集标本2010 年1月~2012 年12月21 例患有EMS 孕妇服用和15例未服用 叶酸的女性胎儿脐血标本，利用甲基化特异性聚合酶链反应（MSP）及亚硫酸氢盐修饰后测序（BSP）检测和比较各组HOXA 10 的甲基化率。结果 补充叶酸组女性胎儿EMS 易感基因HOXA 10 甲基化率显著降低，两组差异有统计学意义（P0.05）。结论 提示叶酸在预防胎源性EMS 易感基因HOXA 10异常甲基化中可能起一定作用。 关键词：子宫内膜异位症；叶酸；甲基化；胎源性 Effect of folic acid in preventing aberrant methylation of fetal endometriosis susceptibility gene HOXA10 LIU Mubiao, HUANG Xuemei, XU Surong, LI Lei Department of Obstetrics and Gynecology, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, China Abstract: Objective To detect aberrant methylation in the promoter region of fetal endometriosis susceptibility gene homeobox-10 (HOXA10) in women with and without folic acid supplementation and explore the effect of folic acid in optimizing intrauterine environment. Methods Thirty-six cord blood specimens were collected between January, 2010 and December, 2012 from pregnant women with endometriosis, including 22 with folic acid treatment and 15 without. Methylation-specific polymerase chain reaction (MSP) and bisulfite salt modified sequencing (BSP) were employed to detect aberrant methylation of HOXA10 gene in these specimens. Results The methylation rate of HOXA10 gene differed significantly between pregnant women with endometriosis taking folic acid and those who did (P0.05). Conclusion Folic acid treatment can significantly reduce the methylation rate of fetal endometriosis susceptibility gene HOXA10. Key words: endometriosis; folic acid; methylation; fetal origin 子宫内膜异位症（endometriosis, EMS）是一种激素 或减少子代出生缺陷的发病率［4-6］。研究发现叶酸的缺 依赖性的女性常见疾病，发