两种不同Y染色体AZF微缺失检测方法比较  

Analysis of two different methods of testing AZF microdeletions

作　　者：陈琨[1,2] 廖喆 唐澜南 任凌雁[1,2] 

机构地区：[1]贵州省人民医院 [2]贵阳市第四人民医院,贵阳550003

出　　处：《中国优生与遗传杂志》2017年第11期75-76,共2页Chinese Journal of Birth Health & Heredity

基　　金：贵州省科技厅与贵州省人民医院联合基金(黔科合LH字[2015]7168号;贵州省科技厅与贵州省人民医院联合基金(黔科合LH字[2015]7169号);贵州省人民医院院士工作站个体化诊疗与转化医学分站(黔科合院士站[2015]4015号)

摘　　要：目的比较多重聚合酶链反应结合琼脂糖凝胶电泳检测法(检测15个位点)和实时荧光定量PCR检测法(检测6个位点)检测Y染色体AZF微缺失。方法对575例不育症患者随机选择两种不同检测法进行检测(电泳法检测300例,荧光PCR法检测275例)。结果电泳法检测出AZF微缺率为8.33%(25/300),荧光PCR法检出AZF微缺率为5.82%(16/275);使用电泳法检出1例患者仅缺失AZFb(sy133、sy145),该位点为荧光PCR法不涉及,同时患者染色体核型为46,XY,del(Y)(q11.23)。结论虽然电泳法检出率高于荧光PCR法,同时检测染色体核型可弥补荧光PCR漏检率。Objective：To analysis the different methods of testing Y chromosome microdeletions of azoospermia factor（AZF）：Agarose gel electrophoresis（multiplex PCR amplification of 15 sequence-tagged sites）and Real-time fluorescent quantitative PCR（amplification of 6 sequence-tagged sites）. Methods：A case-control study was conducted in 575 reproductive failure men from Guizhou province people＇s hospital. There were 300 patients used multiplex PCR amplification of 15 sequencetagged sites. Other 275 patients used Real-time fluorescent quantitative PCR amplification of 6 sequence-tagged sites. Results：Agarose gel electrophoresis detected 25 cases of 300 infertile patients with AZF microdeletions（8.33%）. Screening 275 blood samples STS marker of AZF regions used by Real-time fluorescent quantitative PCR showed AZF microdeletions in 16 patients（5.82%）. Conclusion：Agarose gel electrophoresis detection rate is higher than Real-time fluorescent quantitative PCR.Screening of Chromosome abnormalities make up for the detection rate of Real-time fluorescent quantitative PCR.

关 键 词：Y染色体 AZF微缺失 多重聚合酶链反应结合琼脂糖凝胶电泳检测法 实时荧光定量PCR检测法 染色体核型分析 

分 类 号：R698.2[医药卫生—泌尿科学]