不同类型精子缺陷与印记基因H19甲基化水平关联性研究  

Association between different types of sperm defects and the methylation level of imprinted gene H19

作　　者：董浩[1,2] 胡海翔[3] 陈立敏[3] 王友信[1,2] 沈传运 张杰[1,2] 赵飞飞[1,2] 高晴[1,2] 盖思齐 宋曼殳[1,2] 

机构地区：[1]首都医科大学公共卫生学院,北京100069 [2]临床流行病学北京市重点实验室,北京100069 [3]中国人民解放军空军总医院中西医结合男科中心,北京100142

出　　处：《中国性科学》2016年第3期97-101,共5页Chinese Journal of Human Sexuality

基　　金：国家留学基金管理委员会中法"蔡元培"交流合作项目(留金欧[2012]6021)

摘　　要：目的：探讨不同类型精子缺陷与印记基因H19印记控制区域甲基化水平的相关性。方法：以2014年4月至2014年9月间入院诊治的男性不育患者为研究对象,排除患有精索静脉曲张、隐睾症、核型异常和Y染色体微缺失的病例,依据临床精液常规检查结果,分别筛选出特发性少精子症患者（浓度〈20×10^6/mL,其余指标均正常）、特发性弱精子症患者（前向运动精子百分率〈50%,其余指标均正常）、特发性畸形精子症患者（正常精子形态比率〈15%,其余指标均正常）各25例;25例正常精液样本作为对照组。采用焦磷酸测序法定量分析各组精子DNA中H19基因印记控制区域的甲基化水平。结果：少精子症组[（75.04±15.35）%]和弱精子症组[（79.48±11.64）%]印记基因H19甲基化水平显著低于正常对照组[（89.10±11.23）%],差异均有统计学意义（P=0.006,P=0.024）;畸形精子症组[（87.82±12.10）%]与正常对照组H19基因甲基化水平的差异无统计学意义（P=0.758）。结论：印记基因H19印记控制区域的DNA甲基化程度的降低与少精子症和弱精子症有关联,可能与畸形精子症无关。Objectives： To investigate the correlation of the methylation level of imprinted gene H19 imprinting control region（ ICR） and different types of sperm defects. Methods： The data of male infertility patients who received treatments,from April 2014 to September 2014 in the Air Force General Hospital,was analyzed. Patients were excluded from the study if they had varicocele,orchidectomia,chromosomal aberration and Y- chromosome microdeletions. According to the results of routine semen analysis,we identified 25 idiopathic oligozoospermia patients（ sperm concentration 〈20 × 10^6/ ml）,25 idiopathic asthenozoospermia patients（ progressively motile sperm 〈50%）,25 idiopathic teratozoospermia patients（ normal morphology 15%）,and 25 normozoospermia samples as control group. The methylation level of imprinted gene H19 ICR was analyzed quantitatively by pyrosequencing. Results： The methylation levels of imprinted gene H19 ICR in the oligozoospermia group [（ 75. 04 ±15. 35） % ] and the asthenozoospermia group [（ 79. 48 ± 11. 64） %] were significantly lower than those in the normozoospermia group [（ 89. 10 ± 11. 23） % ],P = 0. 006,P = 0. 024 respectively）,while there was no significant difference（ P = 0. 758） between the teratozoospermia group [（ 87. 82 ± 12. 10） %] and normozoospermia group. Conclusions： The reduced methylation level of imprinted gene H19 ICR were positively correlated with sperm concentration and sperm motility but probably not associated with sperm morphology.

关 键 词：印记基因H19 DNA甲基化 焦磷酸测序 少精子症 弱精子症 畸形精子症 

分 类 号：R698.2[医药卫生—泌尿科学]