非梗阻性无精子症和严重少精子症患者Y染色体微缺失的研究  

Analysis of Y Chromosome Microdeletion in Non-obstructive Male Infertile Patients with Azoospermia and Severe Oligozoo-spermina

作　　者：韩婷婷[1] 丁显平[1] 魏霞[1] 冉静[1] 张丽媛[1] 

机构地区：[1]四川大学生命科学学院生物资源与生态环境教育部重点实验室遗传医学研究所,成都610064

出　　处：《四川大学学报（医学版）》2013年第2期188-192,共5页Journal of Sichuan University(Medical Sciences)

摘　　要：目的探究非梗阻性无精子症和严重少精子症患者中Y染色体微缺失的情况。方法利用多重PCR技术,对203例非梗阻性男性不育患者,包括125例无精子症患者和78例少精子症患者以及100位正常男性进行Y染色体微缺失检测。结果 203例患者中,发现22例(10.8%)患者存在Y染色体微缺失,其中,125例无精子患者中,共检测出12例Y染色体微缺失,缺失率为9.6%,78例严重少精子症患者中,共检测出10例Y染色体微缺失,缺失率为12.8%。AZFc区的缺失率最高,严重少精子症患者仅发现存在AZFc区缺失,正常对照组中未发现Y染色体微缺失。结论男性不育患者在施行卵胞浆内单精子注射(ICSI)或体外受精(IVF)技术之前,有必要进行遗传筛查和遗传咨询。Objective To investigate the frequency and types of the major Y chromosome microdeletions in non-obstructive infertile males with azoospermia and severe oligozoospermia in Chinese. Methods Multiplex polymerise chain reaction （PCR） amplification was used to detect Y chromosome microdeletion in 203 non- obstructive infertile men, including 125 patients with azoospermia and 78 with severe oligozoospermia, as well as 100 fertile men in the control group. Results Among the 203 non obstructive infertile cases, 22 （10.8%） carried a Y chromosome microdeletion and the frequencies of such microdeletions were 9.6 ~ in azoospermia and 12.8~ in oligozoospermia. The most frequent microdeletions were in the AZFc, and all the severe oligospermia were found microdeletions in the AZFc. No Y chromosome microdeletion was detected in the control group. Conclusion It is necessary to offer genetic screening and counseling to infertility men prior to intracytoplasmic sperm injection （ICSI） or in-vitro fertilization （IVF）.

关 键 词：男性不育 无精子症 严重少精子症 多重PCR Y染色体微缺失 

分 类 号：R698.2[医药卫生—泌尿科学]