东北地区男性不育患者的Y染色体微缺失分析  

Analysis of Y chromosome microdeletions in male infertility patients in Northeast China

作　　者：冷旭[1] 潘伯臣[1] 孙陆[1] LENG Xu;PAN Bochen;SUN Lu(Reproductive Center Andrology,Shengjing Hospital of China Medical University,Shenyang 110004,China)

机构地区：[1]中国医科大学附属盛京医院生殖中心男科,沈阳110004

出　　处：《中国医科大学学报》2021年第9期838-841,共4页Journal of China Medical University

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3720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3720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。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 3720 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.

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 

分 类 号：R715.5[医药卫生—妇产科学]