不育症患者精子X,Y及18染色体的荧光原位杂交分析

目的:分析不育症患者精子X,Y,18染色体的荧光原位杂交情况。方法:在男性不育症组中,2例无精子症患者从附睾抽吸获取精子、3例从睾丸获取精子、2例严重少精症患者从射出精液中找到精子。选择5例正常射出精液者作为对照组。应用荧光原位杂交法(FISH)检查精子X,Y以及18号染色体,比较两组精子染色体非整倍体的发生率。结果:不育症组睾丸精子、附睾精子的非整倍体率无差别,但不育症组精子与正常男性组精子比较,非整倍体总发生率、性染色体二体性率及缺对染色体率明显增高(2.8％vs0.58％,0.81％vs 0.19％,2.1％vs0.37％),P<0.001。结论:无精子症与严重少精子症患者的精子比正常精子具有更高的染色体非整倍体率,需要进行大样本的研究,为不育症患者的治疗和遗传咨询提供有效的证据。

The analysis on the sperms X,Y and chromosome 18 by fluorescence in-situ hybridization of pa-tients with infertility

Objective:To analysis on the sperms X, Y and chromosome 18 by the fluorescence in-situ hybridization of patients with infertility.Methods: Epididymal sperms (FISH) were retrieved by percutaneous epididymal sperm aspiration and testicular sperms were surgically retrieved by testicular sperm extraction from azoospermic patients ( n = 5). Ejaculated sperm from oligospermia ( n = 2) were washed by spermgrad and diluted. The normal ejaculated sperm from the husbands of female secondary infertility as control group (n =5) .Samples were processed by FISH with DNA directly-labeled centrometric probes for sperms X,Y and chromosomelS. Results: No difference was observed between the aneuploid rates in testicular sperm and epididymal sperm. However,the frequency of aneuploid, sex disomy and nullisomy in sperms from infertile group were higher than those in normal ejaculate sperm from fertile group (2.8% vs 0.58%,0.81% vs0.19% and 2.1% vs 0.37%,respectively),P<0.001. Conclusions:Azoospermic and severe oligospermatism patients have higher aneuploid rate of chromosome than that of normal fertile men,but it is necessary to require lazge samples for study of treating male infertility and the genetic counseling of all couples for evidence.