男性不育中Y染色体微缺失的研究进展

Research Advances of Y Chromosome Microdeletion in Male Infertility

近年来对男性不育的遗传学因素的广泛研究显示Y染色体微缺失是导致不同程度生精障碍从而引起男性不育的第二大遗传学病因。无精子症因子区(AZF区)由近至远包含3个不同的亚区:AZFa、AZFb和AZFc,不同缺失类型的表型不同。目前常采用PCR法进行Y染色体微缺失的检测,其缺点是准确度低、特异性差、耗时。而基因芯片技术虽能克服上述缺点,但目前成本过高。通过检测能预测患者男性后代的遗传风险,有助于患者选择辅助治疗的方式。虽然Y染色体微缺失的严重不育患者能通过辅助生殖技术成功获得后代,但有可能将遗传缺陷传给男性后代,使之获得相同的Yq微缺失和不育。

Recent research on causes of male infertility suggests that microdeletions of the Y chromosome are the second most frequent genetic cause of spermatogenetic failure in infertile men. In the AZF region, three loci termed as AZFa, AZFb and AZFc have been identified. The phenotypes associated with deletions in the different AZF regions are variable. At present polymerase chain reaction （PCR） is used to detect Y chromosome microdeletions, but it has some disadvantages, such as low veracity, poor specificity, and time consuming. Although gene drip technology can conquer these disadvantages, its cost is too high. Y chromosome microdeletion detection could predict heredity risk of patients＇ male offsprings, it also can help patients select methods of ART.