Y染色体微缺失基因检测在江门地区男性不育患者中的应用研究  

Application study of Y chromosome microdeletion gene detection in male infertility patients in Jiangmen area

作　　者：张伟坚[1] 牛映红[2] 李德良[3] 龙华泉[1] 冯钜豪[3] ZHANG Wei-jian;NIU Ying-hong;LI De-liang(Clinical Laboratory,Xinhui District People's Hospital of Jiangmen,Jiangmen 529100,China)

机构地区：[1]江门市新会区人民医院检验科,广东江门529100 [2]江门市中心医院检验科,广东江门529000 [3]江门市新会区人民医院皮肤科,广东江门529100

出　　处：《中国处方药》2021年第8期10-13,共4页Journal of China Prescription Drug

基　　金：江门市医疗卫生领域科技计划项目(江科【2018】130号2018H013)。

摘　　要：目的通过对江门地区相关男性患者进行Y染色体微缺失基因检测研究,分析其对男性不育患者的诊疗价值。方法选取2016年7月~2020年3月期间江门市中心医院以及新会区人民医院接治的1698例男性门诊患者(包括儿科门诊等未成年人126例)作为研究对象,同时从符合条件的成年男性不育患者以及正常产生精子的患者中随机选取400例患者,按照严重少精子症、无精子症以及正常产生精子进行分组比较。其中严重少精子症、无精子症的患者例数分别为150例、150例,将严重少精子症患者划入严重少精子组,将无精子症患者划入无精子症组,余下100例可正常产生精子的男性作为对照进行研究,分为正常组。结果1698例患者中检出缺失患者87例,总缺失率为5.12%;其中有2例未成年人检出缺失,在未成年人中缺失率为1.59%;成年人中缺失率为5.41%;87例检出缺失患者中AZFa 1例,AZFb 3例,AZFb+c 4例,AZFc 79例。正常组的缺失率为0.0%,相比于正常组的AZF区缺失率,无精子症组、严重少精子组的数值明显更高,组间数据均存在明显差异(P<0.01),正常组男性的精子密度水平明显高于严重少精子症组,正常组成年男性精液检查结果中a级、a+b级、c级精子、d级精子相比于严重少精子症组成年男性均具有更高水平(P<0.05)。结论江门地区男性不育患者缺失比例和缺失区域与某些报道不完全一致,但可能与采集的例数不够多或者与采集的患者来源不同有关,通过检测Y染色体长臂AZF区微缺失可及时发现男性不育的原因,优化治疗方案,降低医疗支出,缓解子代遗传缺陷负荷,为优生优育提供可靠的依据;另外,除了将不育成年患者作为Y染色体基因缺失检测的对象外,应思考对于高度可疑的未成年人,是否有进行Y染色体微缺失基因检测的必要性。Objective Through the study of Y chromosome microdeletion gene detection in the male patients in Jiangmen area,the diagnostic and therapeutic value of male infertility patients was analyzed.Methods 1698 male outpatients(including 126 outpatients in pediatrics)treated by Jiangmen Central Hospital and Xinhui District People's Hospital from July 2016 to March 2020 were selected as the research objects,and 400 male patients with infertility or normal sperm production were randomly selected and divided into severe oligospermia group,azoospermia group and normal sperm production group.Among them,the number of patients with severe oligozoospermia and azoospermia was 150 and 150,respectively,and 100 cases of men with normal sperm production were as a control group.Results Of the 1698 patients,87 patients with Y chromosome microdeletion gene were detected,with a total missing rate of 5.12%;2 of them were children,with the Y chromosome microdeletion rate was 1.59%among minors,5.41%among adults;87 cases patients were detected with 1 cases Y chromosome microdeletion in AZFa,3 cases in AZFb,4 cases in AZFb+c,79 cases in AZFc.Comparison with the normal group 0.0%,the Y chromosome microdeletion rate of the azoospermia group and the severe oligospermia group were significantly higher,with significant(P<0.01).The sperm density of the male in the normal group was significantly higher than that in the severe oligozoospermia group(P<0.05).The levels of Grade a sperm,Grade a+b sperm,Grade c sperm and Grade d sperm in the normal group were higher than those in the severe oligospermia group with significant differences(P<0.05).Conclusion The Y chromosome microdeletion ratio and area of male infertility patients in Jiangmen area are not completely consistent with some reports,but may be related to the insufficient number of collected cases or the source of the collected patients.It can be found in time by detecting the microdeletion in the AZF region of the long arm of the Y chromosome causes of male infertility,optimizing treatment opt

关 键 词：无精子症 少精子症 Y染色体 基因缺失 

分 类 号：R698.2[医药卫生—泌尿科学]