摘要
目的:探讨男性Y染色体AZFc区gr/gr缺失、b2/b3缺失以及gr/gr伴b1-2/b3-4缺失(重复)与复发性流产(RSA)发生的相关性。方法:选择2017年6月至2018年3月来我中心男科就诊,对有Y染色体微缺失检测适应症的患者,采用下一代测序技术(NGS)进行微缺失检测,并通过门诊详细问诊以及其他相关的检查,排除目前已经明确导致RSA的常见原因。将检测出Y染色体AZFc区缺失的170例作为研究组,Y染色体微缺失检测正常患者328例作为对照组,统计Y染色体微缺失与RSA发生率的相关性。结果:研究组中49例患者配偶发生RSA,其中80例gr/gr缺失中配偶发生RSA 18例,75例b2/b3缺失中配偶发生RSA 23例,15例gr/gr伴b1-2/b3-4缺失(重复)中配偶发生RSA 8例;而328例对照组中43例配偶发生RSA。研究组的RSA发生率显著高于对照组(49/170 vs 43/328,P<0.01),gr/gr缺失组(18/80)、b2/b3缺失组(23/75)、gr/gr伴b1-2/b3-4缺失(重复)组(8/15)配偶RSA发生率均显著高于对照组(P<0.05或P<0.01);gr/gr缺失组配偶RSA发生率显著低于gr/gr伴b1-2/b3-4缺失(重复)组(P<0.05),而其他AZFc缺失组间无统计学差异。结论:Y染色体AZFc区gr/gr缺失、b2/b3缺失,以及gr/gr伴b1-2/b3-4缺失(重复)可能与配偶RSA的发生具有一定相关性。
Objective:To investigate the association of gr/gr,b2/b3 and gr/gr with b1-2/b3-4 deletions(repetitions)in the AZFc region of the Y chromosome with recurrent spontaneous abortion(RSA).Methods:Using the next-generation sequencing technology,we examined the men with indications of Y chromosome microdeletion at our center from June 2017 to March 2018 and excluded the common causes of RSA through inquiry and other related examinations.Totally,170 cases of AZFc deletion(80 cases of gr/gr deletion,75 cases of b2/b3 deletion,and 15 cases of gr/gr with b1-2/b3-4 deletion)were detected and included in the case group,and another 328 normal males enlisted as controls.We analyzed the correlation of Y chromosome microdeletions with the incidence rate of RSA.Results:The incidence rate of RSA was significantly higher in the case group than in the normal controls(28.8%[49/170]vs 13.1%[43/328],P<0.01),22.5%(18/80)in the gr/gr deletion cases(P<0.05),30.7%(23/75)in the b2/b3 deletion cases(P<0.01),and 53.3%(8/15)in the gr/gr with b1-2/b3-4 deletion cases(P<0.01),remarkably lower in the gr/gr than in the gr/gr with b1-2/b3-4 deletion subgroup(P<0.05),but with no statistically significant difference between the other subgroups.Conclusion:The gr/gr,b2/b3,and gr/gr with b1-2/b3-4 deletions(repetitions)in the AZFc region of the Y chromosome may cause recurrent spontaneous abortion.
作者
李建波
李博
王玲
王珺
刘闯
马旭辉
张顺
杨涛
兰辉
王晓红
LI Jian-bo;LI Bo;WANG Ling;WANG Jun;LIU Chuang;MA Xu-hui;ZHANG Shun;YANG Tao;LAN Hui;WANG Xiao-hong(Center of Reproductive Medicine,Department of Obstetrics and Gynecology,Tangdu Hospital,Air Force Military Medical University,Xi'an,Shaanxi 710038,China)
出处
《中华男科学杂志》
CAS
CSCD
北大核心
2020年第9期811-814,共4页
National Journal of Andrology
