AZF deletions and male infertility / 中华男科学杂志

ABSTRACT

The Y chromosome contains genes closely related to male gonadal development and spermatogenesis. The azoospermia factor (AZF) is a gene on the long arm of the Y chromosome that regulates spermatogenesis, and its deletion can induce spermatogenic arrest and consequently male infertility. Most researchers subdivide AZF into AZFa, AZFb and AZFc, and some believe there to be another region, AZFd, between AZFa and AZFb. Different AZF deletions lead to different phenotypes. AZFc deletion, as the commonest type that attracts widespread attention of researchers, includes complete AZF deletion and partial AZF deletion, and the latter mainly consists of gr/gr deletion and b2/b3 deletion. The gr/gr deletion can cause infertility in some areas or in human species. The influence of b2/b3 deletion on spermatogenesis has not been confirmed, but its wide spread in haplogroup N has distribution scientists' attention. This review outlines the structures, candidate genes and deletions of AZF, especially AZFc, along with their relationship with spermatogenesis, so as to provide a theoretical basis for clinical prenatal diagnosis and treatment of infertility.