发育医学电子杂志 2014, Vol. 2 Issue (3): 173-177 |
临床遗传
综述
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人类精子发生中的遗传异常 |
李宏军 |
中国医学科学院,北京协和医院泌尿外科,北京100730 |
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Genetic abnormalities in human spermatogenesis |
LI Hong-jun |
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摘要 精子发生是一个复杂的过程,受到染色体上众多基因的调控。染色体及其携带的基因缺失或异常可以不同程度地影响到精子的发生,并影响男性的生育能力[1]。几乎90% 的男性不育患者具有不同程度的精子发生障碍,尽管其病因还不完全清楚,但遗传异常是主要的原因之一[2]。一些研究发现,男性不育患者的外周血淋巴细胞染色体检查异常,并与严重的少精子或无精子相关。
但是,男性不育不仅与体细胞染色体异常有关,还可由于生殖细胞的染色体异常所致。据报道4%的男性不育与性染色体异常有关,1% 与常染色体异常有关。由于检测方法和病例选择的差异,染色体异常的发生率波动于2.2% ~ 10.3%。生精障碍中基因异常约占30%,多数伴有特发性少精子及无精子症。在男性不育(尤其是无精子症)患者中,多数病因不清楚,染色体异常或Y 染色体微缺失发生接近20%(2.2% ~ 19.6%)。
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关键词:
性染色体异常')" href="#">性染色体异常
基因突变
精子
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收稿日期: 2014-02-21
出版日期: 2014-07-30
发布日期: 2019-09-05
期的出版日期: 2014-07-30
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