随着男科学研究的飞速发展,发现相当部分男性不育都可能与基因异常有关。且由于人类基因组计划的开展,近年对男性不育相关基因的研究日益增多,概括为以下2个方面:性染色体上生精基因的缺失与突变,常染色体上基因的缺失与突变。其中,X染色体和常染色体已逐渐成为目前的研究热点。现就这些不育基因的结构特点与功能,及其对临床男性不育检测的指导意义作一综述。 With the rapid development of male scientific research, found that a considerable part of male infertility may be related to genetic abnormalities. Due to the development of the human genome project, the research on male infertility related genes has been increasing in recent years, which is summarized as follows: the deletion and mutation of the spermatogenic genes in sex chromosomes and the deletion and mutation of the genes in autosomal. Among them, the X chromosome and autosome have gradually become the current research focus. The structural features and functions of these sterile genes and their implications for the detection of clinical male infertility are reviewed.