非梗阻性无精子症患者Y染色体微缺失的研究  

The study of Y chromosome microdeletions in patients with non-obstructive azoospermia

作　　者：蔡文娟[1] 许剑锋[1] 周善杰[1] 王乾兴[1] 李云峰[1] 卢文红[1] 李鸿[1] 袁冬[1] 梁小薇[1] 谷翊群[1] 

机构地区：[1]国家人口计生委科学技术研究所,北京100081

出　　处：《中国计划生育学杂志》2010年第10期598-601,共4页Chinese Journal of Family Planning

摘　　要：目的:探索非梗阻性无精子症患者Y染色体长臂上的15个经典微缺失位点进行多重PCR反应的条件,比较多重和单重PCR以及检测15个或者6个微缺失位点的应用价值。方法:将15个微缺失位点分成6组,进行单重和多重PCR的最佳反应条件实验,检测73名非梗阻性无精子症(NOA)患者的微缺失状况,比较各方法的优缺点。结果:15个和6个微缺失位点比较发现,两者在微缺失检出人数和缺失检出位点数目上差异有统计学意义(χ2=5.06,P<0.05和χ2=15.06,P<0.05)。单重和多重PCR的检测结果比较发现,微缺失人数差异无统计学意义(χ2=2.25,P>0.05),位点数目的差异有统计学意义(χ2=22.04,P<0.05)。结论:单重PCR可用于多重PCR筛查之后的确认检测,检测15个位点的微缺失比检测6个位点更有临床价值。Objective：To study the multiple polymerase chain reaction（multi-PCR） reaction conditions of 15 classical microdeletion loci in Y chromosome long arm and compare the multi-PCR techniques with the single PCR method.Methods：The 15 classical microdeletion loci were divided into six groups and the optimal multi-PCR reaction conditions in each group and single PCR reaction conditions were explored.Then 73 patients with non-obstructive azoospermia were detected with their own DNA.Those results were compared using statistical methods.Results：Statistical significances in either microdeletion patient number and microdeletion locus number（χ2 = 5.06,P 0.05;χ2 = 15.06,P 0.05） were found with both traditional 6 loci test and classical 15 loci test.However,no statistically significant difference was found in patient number of microdeletion by comparing single PCR and multi-PCR（χ2 = 2.25,P 0.05）,while statistically significant difference was foune in the locus number（χ2 = 22.04,P 0.05）.Conclusion：Single PCR can be used after multi-PCR.Testing 15 Y-chromosome microdeletion loci has much more clinical values than testing 6 microdeletion loci only.

关 键 词：Y染色体微缺失 非梗阻性无精子症 男性 聚合酶链反应 

分 类 号：R698.2[医药卫生—泌尿科学]