皖南地区非特发性男性不育患者Y染色体微缺失的研究

目的:探讨非特发性男性不育症与Y染色体微缺失的关系。方法:采用多重PCR技术,对86例存在相关疾病的不育症患者和10例正常生育男性对照进行Y染色体微缺失的检测。选取AZFa、b和c区6个序列标签位点(STS)对61例无精子症和25例严重少精子症患者进行外周血Y染色体微缺失分析。结果:86例非特发性生精障碍患者(精索静脉曲张患者50例,有腮腺炎病史患者27例,隐睾患者9例)中有7例发生Y染色体缺失,缺失率为8.1%(7/86)。AZFb区2例,AZFc区3例,AZFb+c 2例,AZFa区未见缺失。10例已生育男性均未检测到Y染色体微缺失。结论:非特发性生精障碍患者也应该进行Y染色体微缺失的筛查,为诊断和治疗提供遗传学依据。

Y chromosome microdeletion in male nonidiopathic infertility population from South Anhui province

Objective：To explore the relationship between Y chromosome microdeletion and non-idiopathic infertility in male cases with dyszoospermia. Methods ： Multiplex PCR was used to detect the samples from 86 patients with this disease, among whom 61 were azoospermia and 25 were oligospermia, for screening the 6 STS loci from AZFa, b and c regions. 10 male subjects in normal reproductive state were recruited as controls for the comparison of Y chromosome microdeletion. Results ： Y chromosome microdeletion was found in 7 （ 8.1% ） of 86 non-idiopathic infertile males of dyszcx）spermia （50 cases with varicocele, 27 with history of mumps and 9 with cryptorchidism）. Microdeletion in region AZFb was seen in 2 cases,AZFc in 3 and both AZFb and c in 2,of the total 7 cases. Deletion was not screened in AZFa region, and no deletion was found in the 10 controls. Conclusion： Screening Y chromosome microdeletion should be recommended in male nonidiopathic infertility patients with dyszoospermia for the evidence of diagnosis and treatment in terms of genetics.