新疆地区男性不育患者Y染色体微缺失结果和临床遗传效应分析

Analysis of clinical genetic effects and results of Y chromosome microdeletion in infertile males

目的分析男性不育患者Y染色体微缺失结果和临床遗传效应。方法对乌鲁木齐市妇幼保健院2013年10月—2016年12月1090例男性不育患者采用PCR技术、染色体技术进行Y染色体与外周血染色体微缺失六个系列标签位点。结果有65例患者被检测出AZFa,AZFb;不孕产史组、生精障碍组、正常组Y染色体AZF基因缺失具有统计学意义;染色体多态性和小Y属于Y染色体的常见核型。结论 AZF微缺失检测、外周血染色体检查在遗传学病因明确中的应用效果显著。

Objective To analyze the results and clinical genetic effects of Y chromosome microdeletion in infertile males. Methods In our hospital from October 2013 to December 2016,totally 1090 cases of male infertility patients using PCR technology,technology of chromosome Y chromosome and peripheral blood chromosome microdeletion in a series of six tagged sites. Results Totally 65 patients were detected by AZFa AZFb; Production history group,infertility group,spermatogenic disorder group,normal group Y chromosome AZF gene deletion has statistical significance; Common karyotype polymorphism and belongs to small Y chromosome. Conclusion The examination of AZF microdeletions and choromosome of peripheral blood in the diagnosis of genetic etiology is remarkable.