无精症、严重少精症患者Y染色体无精子因子微缺失的遗传学研究

A genetic study on microdeletion of azoospermia factor region on Y chromosome of azoospermia and oligozoospermia patients

目的研究男性无精症和严重少精症患者的发病原因。方法应用细胞遗传学和多重聚合酶链反应技术,对148例无精症、严重少精症患者进行检测。结果在148例患者中发现11例Y染色体无精子因子(azoospermiafactor,AZF)微缺失(7.4%),在检测的AZFa、AZFb、AZFd、AZFc4个区域共15个序列标签位点中,缺失13个位点、11个位点、2个位点和1个位点的各有1例,缺失12个位点的有2例,缺失5个位点的有5例。发现7例患者的染色体发生了明显的形态学改变(4.7%),其中1例Y染色体长臂缺失伴易位,4例Y染色体的长臂单纯缺失,1例Y染色体长臂1区2带(Yq12)增加,1例常染色体之间发生了相互易位。结论AZF微缺失和染色体异常是引起男性不育的主要原因之一。

Objective To investigate the genetic causes of azoospermia and severe oligozoospermia. Methods Cytogenetic analysis and multiplex polymerase chain reaction(PCR) analysis were done on the 148 patients with azoospermia and serious oligozoospermia. Results Eleven of the 148(7.4%) cases showed microdeletion of at least one STS.In fifteen STS of AZFa, AZFb,AZFd, AZFc, thirteen STS, eleven STS,two STS and one STS microdeletion were found in each case respectively, including two with 12 STS, five with 5 STS microdeletion.Seven cases had chromosomal morphologic changes(4.7%),four had deletion and one had deletion with translocation of long arm on Y chromosome. One had enlarged region one band two(q12) on long arm of Y chromosome and one had reciprocal translocation of autosomes. Conclusion The findings indicated that AZF microdeletion and chromosomal abnormality should be important causes of male infertility.