国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2013, Vol. 32 ›› Issue (3): 166-168.

• 论著 • 上一篇    下一篇

男性不育与Y染色体AZF微缺失的关系探讨

卓胜楠, 张伟伟, 张 帅, 张印峰, 崔险峰, 罗海宁, 张云山   

  1. 300070 天津医科大学（卓胜楠，张伟伟，张 帅）；天津市中心妇产科医院（张印峰，崔险峰，罗海宁，张云山）
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2013-05-15 发布日期:2013-05-15
  • 通讯作者: 张云山

Investigation the Association between Male Infertility and Microdeletions of AZF Genes

ZHUO Sheng-nan，ZHANG Wei-wei，ZHANG Shuai，ZHANG Yin-feng，CUI Xian-feng，LUO Hai-ning，ZHANG Yun-shan   

  1. Tianjin Medical University，Tianjin 300070，China（ZHUO Sheng-nan，ZHANG Wei-wei，ZHANG Shuai）；Tianjin Central Hospital of Gynecology Obstetrics，Tianjin 300100，China（ZHANG Yin-feng，CUI Xian-feng，LUO Hai-ning，ZHANG Yun-shan）
  • Received:1900-01-01 Revised:1900-01-01 Published:2013-05-15 Online:2013-05-15
  • Contact: ZHANG Yun-shan

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摘要： 目的：探讨检测男性不育患者Y染色体微缺失的临床意义。方法：应用多重聚合酶链反应（PCR）对门诊122例男性不育患者行Y染色体AZFa、AZFb、AZFc和AZFd区15个序列标签位点（STS）[包括由欧洲男科学会（EAA）推荐的6个STS位点]基因进行微缺失检测，并同时进行基础性激素和染色体核型检测。结果：122例男性不育患者中AZF基因微缺失患者共检出12例，总缺失率为9.8%（12/122），其中无精子症组、严重少弱精子症组和少精子症组患者的缺失率分别是11.1%（5/45）、10.9%（6/55）、4.5%（1/22）；1例为染色体核型异常，核型为45，XY，-13-14+t（13；14 ）（q11；q11），未检测到AZF微缺失。无精子症组和严重少弱精子症组患者Y染色体AZF微缺失率明显高于少精子症组（χ2=7.810，P=0.005；χ2=7.700，P=0.006）。3组间基础性激素水平差异无统计学意义（P＞0.05）。结论：AZF微缺失是男性不育的重要原因之一，可引起原发性无精子症、严重少弱精子症和少精子症。男性不育患者在接受辅助生殖技术前进行AZF微缺失检测，可减少各种不必要的治疗带来的心理痛苦和经济压力，具有重要的临床意义。

关键词: 不育, 男（雄）性, 基因缺失, Y染色体, 性染色体畸变, AZF微缺失

Abstract: Objective： To evaluate the clinical significance of Y chromosome microdeletion in male infertility. Methods：122 cases with male infertility were included in this study. Fifteen pairs of sequence-tagged site （include the six STSs site recommended by the EAA） based primers，spanning the AZFa，AZFb，AZFc，and AZFd regions in Y chromosome, were screened by the multiplex PCR. The basic levels of sexual hormones, and chromosome karyotype, were detected. Results：12 microdeletions were identified in all 122 cases, with the total rate of 9.8% (12/122). The rats of AZF microdeletions were 11.1%（5/45），10.9%（6/55）and 4.5%（1/22） in cases of azoospermia，severe oligozoospermia and oligozoospermia, respectively. The chromosome karyotype was abnormal，45，XY，-13-14+t（13；14）（q11；q11），in one case. The rates of AZF microdeletion in cases with azoospermia and severe oligozoospermia were significant higher than that in cases with oligozoospermia （χ2=7.810，P=0.005；χ2=7.700，P=0.006）. There was not significant difference in the hormonal levels of three groups （P＞0.05）. Conclusions：Microdeletion of AZF gene on Y chromosome is one of the major risks leading to idiopathic azoospermia，severe oligozoospermia or oligozoospermia. So it is important to test the AZF gene microdeletion before undergoing assisted reproductive technology （ART） for male infertility, which could reduce patients′ mental pain and economic pressure.

Key words: Infertility, male, Gene deletion, Y chromosome, Sex chromosome aberrations, AZF gene microdeletions