Y chromosome microdeletion and male infertility: past, present and future / 中华男科学杂志

ABSTRACT

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 amplicons 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.