摘要： 目的 探讨男性不育患者Y染色体微缺失的种类及其与精子检测结果之间的关系。方法 针对12个Y染色体特异序列标签位点设计引物，采用PCR方法检测3 720例男性不育患者的Y染色体微缺失情况，并分析对应患者的精子检测结果。结果 3 720例男性不育患者中共检出Y染色体微缺失165例，检出率为4.43%；其中，包含AZFa和AZFb主要位点缺失的检出率分别为0.24%和0.99%，均为无精子患者；AZFc和AZFd缺失的检出率为2.66%和0.24%，分别63%和89%为有精子患者；Y染色体微缺失构成比为AZFabcd 5.45%，AZFa 5.45%，AZFb 6.67%，AZFbcd 16.98%，AZFc 60.00%，AZFd 5.45%。结论 AZFc缺失是最常见的Y染色体微缺失，约2/3 AZFc缺失患者有精子存在，经过治疗后有可能找到更多精子。可适当增加微缺失基因检测的位点，但不能过度解读，某些非常规检测位点缺失将被强制传播给雄性后代，部分缺失有可能扩展为完全的缺失而影响生育。

东北地区男性不育患者的Y染色体微缺失分析

冷旭, 潘伯臣, 孙陆

中国医科大学附属盛京医院生殖中心男科, 沈阳 110004

收稿日期:2020-11-26出版日期:2021-09-30发布日期:2021-09-18
通讯作者:潘伯臣E-mail:panbochen@cmu.edu.cn
作者简介:冷旭(1980-),男,主治医师,硕士.



关键词: Y染色体微缺失, 无精子症因子, 无精子症, 少精子症, 男性不育
Abstract: Objective To catalog the types of Y chromosome microdeletion in male infertility patients,and explore the relationship of each with sperm production. Methods Primers were designed for 12 Y chromosome specific sequence tag sites,and were used for a PCR based assay for Y chromosome microdeletions. Patients in which deletions were found were assessed for sperm production. Results One hundred and sixty five patients with Y chromosome microdeletions (4%) were detected among 3 720 male infertility patients. Detection rates for AZFa and AZFb microdeletions were 0.24% and 0.99%. In these patients no sperm was present. Detection rates for AZFc and AZFd microdeletions were 2.66% and 0.24%,respectively,and 63% and 89% of these patients produced sperm. The Y chromosome microdeletion ratios were AZFabcd 5.45%,AZFa 5.45%,AZFb 6.67%,AZFbcd 16.98%,AZFc 60.00%,and AZFd 5.45%. Conclusion AZFc is the most common Y chromosome microdeletion. Approximately 2/3 of patients with the AZFc microdeletion have sperm,and more sperm may be found after treatment. The microdeletion sites should properly increase but cannot be over-interpreted. Some uncommon site deletions will be unavoidably transmitted to male offspring. Partial microdeletions can expand to complete microdeletions,affecting male infertility.
Key words: Y chromosome microdeletion, azoospermia factor, azoospermia, oligospermia, male infertility
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