男性不育症患者Y染色体微缺失分析  

An analysis of Y chromosome microdeletion in patients with male infertility

作　　者：陆文昊[1] 李真法[1] 杨欢利[1] LU Wenhao;LI Zhenfa;YANG Huanli(Reproductive Center,Taizhou Hospital of Zhejiang Province,Linhai 317000,CHINA)

机构地区：[1]浙江省台州医院生殖中心,浙江临海317000

出　　处：《江苏医药》2022年第6期594-597,共4页Jiangsu Medical Journal

基　　金：台州市科技计划A类专项资金资助(14SF03)。

摘　　要：目的分析1892例男性不育症患者的Y染色体微缺失及染色体核型。方法根据精液化参数,1892例男性不育症患者分为无精子症组(257例)、少精子症组(293例)和精液正常组(1342例)。采用多重PCR法扩增患者序列标签位点,检测位点的缺失情况,并对其外周血进行染色体核型分析,探讨性染色体异常与男性生育及无精子因子关系。结果1892例男性不育症患者中检测出Y染色体微缺失44例(2.33%)。与精液正常组相比,无精子症组、少精子症组Y染色体微缺失率较高(10.89%、3.75%vs.0.37%)(P<0.01),且无精子症组更高(P<0.01)。1892例男性不育症患者检测出性染色体异常17例(0.90%),包括无精子症组15例、精液正常组2例。17例性染色体异常患者同时检出Y染色体微缺失共计8例,均为无精子症组患者。结论无精子因子基因缺失影响精子发生,可能联合Y染色体核型异常进一步降低精子发生。Objective To investigate the Y chromosome microdeletion and karyotype of 1892 patients with male infertility.Methods According to the seminal parameter,a total of 1892 patients with male infertility were divided into three groups of A(257 cases with azoospermia),B(293 cases with oligospermia)and C(1342 cases with normal semen).The sequence label sites were amplified by multiple PCR for detecting the deletion of sites.The karyotype of G-band chromosome in peripheral blood was analyzed to explore the relationship of sex chromosome abnormality with male fertility and azoospermia.Results Of 1892 patients with male infertility,44 cases(2.33%)of Y chromosome microdeletion were detected.Compared with group C,the rate of Y chromosome microdeletion was higher in groups of A and B(10.89%and 3.75%vs.0.37%)(P<0.01),which was much higher in group A than that in group B(P<0.01).Of 1892 cases,the sex chromosome abnormality was found in 17 cases(0.90%),which included 15 cases in group A and 2 cases in group C.Moreover,8 cases in group A had both sex chromosome abnormality and Y chromosome microdeletion.ConclusionAzoospermia gene deletion affects spermatogenesis and may be associated with Y chromosome karyotype abnormality.

关 键 词：男性不育症 染色体异常 Y染色体微缺失 

分 类 号：R698[医药卫生—泌尿科学]