Y染色体新缺失类型gr/gr微缺失对精子发生的影响

Effects of novel gr/gr microdeletion in Y chromosome on spermatogenesis

目的探讨Y染色体新缺失类型gr/gr微缺失对睾丸精子发生的影响。方法选取Y染色体特异性序列标签点(STS),用多重PCR技术检测严重男性不育患者118例,志愿捐精者120例,观察Y染色体gr/gr微缺失情况。不育患者经2次以上精液分析,均为睾丸性无精子症或精子密度<1×106/ml。捐精者均经精液分析和染色体检查,符合卫生部标准的正常男性。追踪分析6例gr/gr微缺失者父亲微缺失情况,其中3例为不育者的父亲,另3例为捐精者的父亲。结果多重PCR检测118例男性不育患者gr/gr微缺失12例(10.2%);120例捐精者gr/gr微缺失11例(9.2%)。2组比较差异无统计学意义(P>0.05)。6例gr/gr微缺失者的父亲均表现gr/gr微缺失。结论Y染色体gr/gr微缺失既存在于严重不育男性,也存在于生精功能正常的捐精者中,gr/gr微缺失可能遗传自父亲,可能未影响精子的发生,不能认为是精子发生的遗传风险因子。

Objective To investigate the effects of novel gr/gr microdeletion of Y chromosome on spermatogenesis. Methods New Y chromosome specific sequence-tagged-sites(STS) were screened and the gr/gr microdeletion were determined by PCR in 118 serious infertile men,120 donors from sperm bank and 6 fathers of subjects with gr/gr microdeletion. Results 12 cases in male infertile group( 12/118, 10.2 %),11 cases in donor group(11/120,9.2%) were confirmed to be gr/gr microdeletion.According to statistics,the difference w...