Schlegel Peter N
Department of Urology, The New York Presbyterian Hospital-Weill Medical College of Cornell University, New York, NY, USA.
Reprod Biomed Online. 2002 Jul-Aug;5(1):22-5. doi: 10.1016/s1472-6483(10)61592-1.
The Y chromosome has evolved to provide sex determination in mammals. In association with its evolution, genes important for spermatogenesis have been sequestered on this chromosome. Further, X chromosome inactivation has developed as a mechanism to prevent over-expression of genetic factors important for somatic function in females, with maintenance of their activity in males. The multi-repeat organization of the Y chromosome and limited regions of crossover with other chromosomes predisposes it to internal recombination and loss of genes that may be important for spermatogenesis. Y chromosome microdeletion testing of infertile men with non-obstructive azoospermia provides prognostic information useful for management of these patients. In the presence of a complete deletion of the azoospermic factor a (AZFa) or AZFb regions, sperm retrieval is highly unlikely. Recent advances in our understanding of the organization and function of the Y chromosome are likely to enhance further the role of the Y chromosome in normal spermatogenesis and fertility.
Y染色体已经进化到能够决定哺乳动物的性别。随着其进化，对精子发生重要的基因已被隔离在这条染色体上。此外，X染色体失活已发展成为一种机制，以防止对雌性体细胞功能重要的遗传因子过度表达，同时维持其在雄性中的活性。Y染色体的多重复组织以及与其他染色体的有限交叉区域使其易于发生内部重组和可能对精子发生重要的基因丢失。对非梗阻性无精子症的不育男性进行Y染色体微缺失检测可提供对这些患者管理有用的预后信息。如果完全缺失无精子症因子a（AZFa）或AZFb区域，则极不可能获取精子。我们对Y染色体的组织和功能理解的最新进展可能会进一步增强Y染色体在正常精子发生和生育中的作用。
