中文摘要：

由遗传缺陷所引起的精子发生障碍是男性不育的一个重要病因。一直以来,Y染色体被认为缺乏重要的功能基因。直到睾丸决定基因的发现,Y染色体的研究才重新得到重视。Y染色体的成功测序揭开了Y染色体的真实结构和Y染色体微缺失的分子基础。在Y染色体上的220个基因中,位于AZF区的16个编码基因或基因家族与男性生殖与发育相关。至今,在Y染色体AZF区已发现至少12种缺失。Y染色体上大量的同源序列与回文结构所致非等位的同源性重组是Y染色体微缺失发生的分子基础。Y染色体微缺失是已知的导致男性不育的最主要的分子遗传病因,临床上常使用PCR扩增Y染色体特异的序列标记位点来进行检测。基因组学时代的到来为男性不育的研究带来革命性的工具与方法,有利于加深对Y染色体缺失发生机制的了解,进一步明确Y染色体基因的功能以及相互之间的联系,为基因治疗奠定基础。

英文摘要：

The spermatogenesis failure with a genetic defect is one of the major causes of male infertility.The Y chromosome is considered a lack of important functional genes.It was the discovery of the sex determining region Y that rekindled scientists＇ attention to the Y chromosome.The successful sequencing of the Y chromosome uncovered its actual structure and the molecular base of its microdeletion.Of the 220 Y chromosome genes （104 coding genes,111 pseudogenes,and 5 other uncategorized genes）,16 coding genes have been found in the azoospermia factor region （AZF） and related with male fertility.To date,more than 12 Y chromosome microdeletions have been discovered in the AZF region.The ampliconic regions in the Y chromosome are the genetic base of microdeletion occurrence.The Y chromosome microdeletions in the AZF region have been identified as a relatively common cause of male infertility and diagnosed by multiplex PCR in the clinical laboratory.Genomics has brought many revolutionized tools beneficial for better understanding the genetics of mal infertility and defining the role of the Y chromosome gene in spermatogenesis.