原发无精子症患者Y染色体AZF微缺失研究  

Study on Primary Azoospermia of Y Chromosome AZF Microdeletions

作　　者：陆国芳[1] 孙丰涛[2] 任晨春[2] 张海霞[2] 田野[1] 梁玥宏[2] 

机构地区：[1]天津医学高等专科学校医学遗传、生化教研室,300222 [2]天津市中心妇产科医院遗传室

出　　处：《天津医药》2011年第12期1099-1101,共3页Tianjin Medical Journal

基　　金：天津市教委科研计划项目(项目编号:20070211)

摘　　要：目的:研究原发无精子症患者Y染色体无精子症因子(AZF)基因微缺失频率,为细胞质内单精子注射(ICSI)辅助生育治疗前的临床检验及不育症的遗传咨询提供方法和依据。方法:采用多重PCR法,对天津地区染色体核型均正常的正常生育者30例(正常组)和68例原发无精子症患者(患者组)进行Y染色体AZF区6个位点微缺失检测。结果:患者组存在AZF区微缺失共12例(17.65%)。其中缺失位点在AZFa的sY84者3例(4.41%),AZFb的sY127有1例(1.47%),AZFc的sY254或sY254和sY255共6例(8.82%),AZFb+c的sY134和sY254有1例,sY127、sY254和sY255的1例。正常组各位点均无缺失,2组微缺失率差异有统计学意义(χ2=6.033,P<0.05)。结论:天津地区原发无精子症患者AZF区6位点微缺失检测,缺失率较高。Objective： To investigate the frequency of Y chromosome azoospermia factor （AZF） microdeletions in primary azoospermia,and to provide pre-treatment method and basis of clinical examination for intracytoplasmic sperm injection （ICSI） techniques of assisted reproduction and genetic counseling of male infertility. Methods： Six loci microdeletions of Y chromosome AZF region were detected by multiple PCR in 68 cases of primary azoospermia patients and 30 cases with normal birth in Tianjin area. Results： There were a total of 12 patients with AZF micro deletion area, the total loss frequency was 17.65%. There were 3 cases of sY84 in AZFa deletions （4.41%）, 1 cases of sY127 in AZFb （1.47%）, 6 cases of sY254 or sY254 and sY255 in AZFc （8.82%）, 1 case of sY134 and sY254 in AZFb＋c and 1 case of sY127 and sY254 with sY255 in AZFb＋c （2.94%）. There was no lack of the loci in normal group. Chi-square analysis indicated that there were significant differences in rates of microdeletions between two groups （χ2 = 6.033,P﹤0.05）. Conclusion： There was a high frequency of lack in Y chromosome AZF region 6 loci microdeletion in primary azoospermia.

关 键 词：无精子症 Y染色体 基因 sry 基因缺失 精子注射 细胞质内 不育 男(雄)性 天津 

分 类 号：R698.2[医药卫生—泌尿科学]