【摘要】 目的 分析Y染色体平衡易位与男性精液质量的相关性。方法 回顾性分析2019年1月—2021年12月北京大学第三医院生殖医学中心就诊的男性病例资料，筛选出14例染色体核型分析为Y染色体平衡易位病例，以及同期185例染色体核型结果正常(46, XY)的男性作对照。通过比较两组间精液常规质量，包括精子的数量、活率以及形态学检测，分析Y染色体与常染色体间平衡易位与男性精液质量的相关性。结果 除精液量外，Y染色体平衡易位患者的精液密度、精子总数、精子活率、前向运动精子百分率以及正常形态精子百分率均显著低于对照男性组。14例患者中有7例为无精子症，7例为严重少弱畸形精子症。q12(14例)、q11.23(4例)是Y染色体平衡易位断裂点高发区域。结论 Y染色体平衡易位对于精子数量、活力及形态具有显著影响，严重时可导致少弱畸形精子症或无精症，影响患者的生育能力。更多还原

【Abstract】 Objective To investigate the correlation between balanced chromosome Y translocation and semen quality in male carriers. Methods 14 cases of balanced chromosome Y translocation carriers and 185 cases of control groups with normal karyotype results(46, XY) were selected through retrospective screening of patients who visited Peking University third hospital from January 2019 to December 2021. The relevance of balanced chromosome Y translocation with semen quality was analyzed through the evaluation of sperm count, sperm motility, and sperm morphology. Results Except for seminal volume, sperm concentration, total sperm count, rate of motile sperm, rate of progressively motile sperm and rate of normal morphological sperm were significantly lower in cases with balanced chromosome Y translocation compared to control group. Among the 14 cases, 7 were azoospermia and 7 were oligoasthenoter atozoospermia. Yq12(14 cases) and Yq11.23(4 cases) are the hotspot-regions that chromosome Y translocation occurs. Conclusion Chromosome Y translocation has an impact on sperm count, motility and morphology, and even leads to oligoasthenoter-atozoospermia or azoospermia which affects patients′ fertility.更多还原