Wallerand Hervé, Bernardini Stéphane, Chabannes Eric, Bittard Hugues
Service d'Urologie-Andrologie, Hôpital Saint-Jacques, 2, place Saint-Jacques, 25030 Besançon.
Prog Urol. 2003 Sep;13(4):560-3.
At the present time, 15% of couples experience reproduction difficulties. Surgical collection of spermatozoa associated with the intracytoplasmic sperm injection technique (ICSI) resolves the problems of male infertility formerly considered to be irreversible, regardless of its aetiology. Molecular biology now allows evaluation of the genetic dimension of male infertility. Although it demonstrates the multiple aetiologies of male infertility, it also reveals the gaps in our knowledge and the extent of the task that has yet to be accomplished. Microdeletion of the Y chromosome, detected in 2% to 20% of infertile patients with a disorder of spermatogenesis, has already been well documented. All of the genes involved on the Y chromosome (DAZ, RBMY, etc.) in infertile patients have been shown to be involved in spermatogenesis. Testing for other genes of the genome would also be useful. However, the unknown outcome of these abnormalities with successive generations raises a number of questions. In this article, the authors describe the main genes involved in spermatogenesis as demonstrated by molecular biology.
目前,15%的夫妇存在生育困难。与卵胞浆内单精子注射技术(ICSI)相关的精子手术采集解决了以前被认为不可逆转的男性不育问题,无论其病因如何。分子生物学现在能够评估男性不育的遗传层面。尽管它揭示了男性不育的多种病因,但也暴露了我们知识上的空白以及尚未完成的任务的范围。在2%至20%患有精子发生障碍的不育患者中检测到的Y染色体微缺失,已经有了充分的文献记载。不育患者中Y染色体上涉及的所有基因(DAZ、RBMY等)都已被证明与精子发生有关。检测基因组中的其他基因也会很有用。然而,这些异常在连续几代人中的未知结果引发了许多问题。在本文中,作者描述了分子生物学所证明的与精子发生相关的主要基因。