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韩婷婷, 丁显平, 魏霞, 等. 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[J]. koko体育app 学报（医学版）, 2013, 44(2): 188-192.
引用本文: 韩婷婷, 丁显平, 魏霞, 等. 非梗塞性无精子症和较为严重的少精子症自身Y染色剂体微异常的研究方案[J]. 云南大学生学报（中医药学版）, 2013, 44(2): 188-192.
HAN Ting-ting, DING Xian-ping, WEI Xia, et al. Analysis of Y Chromosome Microdeletion in Non-obstructive Male Infertile Patients with Azoospermia and Severe Oligozoo-spermina[J]. Journal of Sichuan University (Medical Sciences), 2013, 44(2): 188-192.
Citation: HAN Ting-ting, DING Xian-ping, WEI Xia, et al. Analysis of Y Chromosome Microdeletion in Non-obstructive Male Infertile Patients with Azoospermia and Severe Oligozoo-spermina[J]. Journal of Sichuan University (Medical Sciences), 2013, 44(2): 188-192.

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

  • 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。  
    Abstract: 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).  
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