[无梗阻性无精子症和严重少精子症男性不育患者Y染色体微缺失分析]
[Analysis of Y chromosome microdeletion in non-obstructive male infertile patients with azoospermia and severe oligozoospermia].
作者信息
Ting-Ting Han, Xian-Ping Ding, Xia Wei, Jing Ran, Li-Yuan Zhang
机构信息
Institute of Medical Genetics, Key Laboratory of Bio-resources and Eco-environment, Ministry of Education, College of Life Science, Sichuan University, Chengdu 610064, China.
出版信息
Sichuan Da Xue Xue Bao Yi Xue Ban. 2013 Mar;44(2):188-92.
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 nonobstructive 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).
目的
探讨中国非梗阻性无精子症和严重少精子症不育男性中主要Y染色体微缺失的频率及类型。
方法
采用多重聚合酶链反应（PCR）扩增检测203例非梗阻性不育男性的Y染色体微缺失，其中包括125例无精子症患者和78例严重少精子症患者，同时检测100例生育男性作为对照组。
结果
在203例非梗阻性不育病例中，22例（10.8%）存在Y染色体微缺失，无精子症患者中此类微缺失的频率为9.6%，少精子症患者中为12.8%。最常见的微缺失位于AZFc区域，所有严重少精子症患者均在AZFc区域发现微缺失。对照组未检测到Y染色体微缺失。
结论
在进行卵胞浆内单精子注射（ICSI）或体外受精（IVF）之前，有必要对不育男性进行基因筛查和咨询。
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