Y染色体微缺失检测对男性不育的临床价值研究  

Study on the Clinical Value of Y Chromosome MicrodeletionDetection in Male Infertility

作　　者：张燕 索峰[1] 缑灵山 王亿 孙成才 王传霞[1] 顾茂胜 ZHANG Yan;SUO Feng;GOU Ling-shan;WANG Yi;SUN Cheng-cai;WANG Chuan-xia;GU Mao-sheng(Genetic Medicine Center,Xuzhou Maternal and ChildHealth Care Hospital,Jiangsu Xuzhou 221000,China)

机构地区：[1]徐州市妇幼保健院遗传医学中心,江苏徐州221000

出　　处：《现代检验医学杂志》2020年第1期40-42,共3页Journal of Modern Laboratory Medicine

基　　金：江苏省妇幼保健重点学科(FXK201753);江苏省妇幼健康科研课题(F201819);徐州市科技计划项目(KC18175,KC18027)。

摘　　要：目的探讨Y染色体无精子症因子(azoospermia factor AZF)基因微缺失检测对男性不育的临床诊疗价值。方法选取2016年11月~2019年7月于徐州市妇幼保健院就诊的509例男性不育患者,依据临床诊断类型分为初诊为不育组(369例)、精子状态异常组(117例)和睾丸发育异常组(23例)。采用多重PCR技术进行Y染色体微缺失检测。结果509例患者中检出Y染色体微缺失24例,检出率4.72%(24/509)。其中初诊为不育组11例,精子状态异常组9例和睾丸发育异常组4例,三组数据差异均具有统计学意义(χ^2=13.004,P=0.002)。24例AZF基因微缺失患者中初诊为不育组检出AZFc区缺失10例,AZFabc区缺失1例;精子状态异常组检出AZFc区缺失7例,AZFbc区及AZFb区缺失各1例;睾丸发育异常组检出AZFc区缺失1例,AZFabc区缺失3例。三组数据差异具有统计学意义(χ^2=15.093,P=0.020)。结论Y染色体微缺失的检出有助于尽快明确部分男性不育的根本原因,从而指导临床制定出更加合理有效的诊疗方案。Objective To investigate the clinical value of Y chromosome AZF gene microdeletion detection for male infertility. Methods 509 cases of male infertility patients admitted to Xuzhou Maternal and Child Health Care Hospital from November 2016 to July 2019 were selected. According to clinical diagnosis types,and they were divided into three groups: initially diagnosed as infertility group( 369 cases),sperm state abnormality group( 117 cases) and testicular dysplasia group( 23 cases). Multiple PCR was used to detect Y chromosome microdeletion. Results Y chromosome microdeletion was detected in 24 of 509 patients,with a detection rate of 4. 72%( 24/509). Among them,11 cases were initially diagnosed as infertility group,9 cases were diagnosed as sperm state abnormality group and 4 cases were diagnosed as testicular dysplasia group. The data differences between the three groups were statistically significant( χ~2= 13. 004,P = 0. 002). Among the 24 cases of AZF gene microdeletion,10 cases of AZFc region deletion and 1 case of AZFabc regions deletion were detected in the initially diagnosed as infertility group. AZFc region deletion was detected in 7 cases,AZFbc regions deletion and AZFb region deletion in1 case each. AZFc region deletion was detected in 1 case and AZFabc regions deletion was detected in 3 cases in the testicular dysplasia group. The differences between the three groups were statistically significant( χ~2= 15. 093,P = 0. 020). Conclusion The detection of Y chromosome microdeletion will help to identify the root cause of some male infertility as soon as possible,so as to guide the clinical work out a more reasonable and effective diagnosis and treatment plan.

关 键 词：Y染色体微缺失 男性不育 临床价值 无精子症因子 

分 类 号：R698.2[医药卫生—泌尿科学] R446.7[医药卫生—外科学]