特发性少精子症患者精子X和Y染色体的双色荧光原位杂交分析

摘要

目的利用双色荧光原位杂交技术（ FISH）方法分析特发性少精子症患者精子X和Y染色体畸变，探讨双色荧光原位杂交对性染色体数目异常诊断的价值。方法使用双色荧光标记（ CEP X、Y）探针，对10例精液正常者（对照组）和20例特发性少精子症患者精子标本进行原位杂交分析，对比两组精子X和Y染色体的非整倍率。结果对照组共记录4180个精子，有荧光信号精子数为4165个，杂交率为99．64％；特发性少精子症组共记录5992个精子，有荧光信号精子数为5860个，杂交率为97．80％。对照组精子X和Y染色体非整倍体率为1．36％，明显低于特发性少精子症组的4．54％（P＜0．01）。结论特发性少精子症患者的精子染色体非整倍体率较高；双色荧光原位杂交技术检测特发性少精子症患者精子X和Y染色体非整倍体具有较高的应用价值。%Objective To analyze the aberration of chromosome X and Y in patients with idiopathic oilgozo-ospermia by dual-color fluorescence in situ hybridization(FISH),and to evaluate the value of dual-color FISH in the diagnosis of sex chromosome abnormality .Methods The sperm samples were collected from 10 patients with normal semen quality ( control group ) and 20 patients with idiopathic oligozoospermia .Dual-color FISH was performed by u-sing centromeric probes .The frequencies of aneuploidy of chromosome X and Y in spermatozoa were compared be-tween two groups .Results There were 4180 sperms counted in the control group ,4165 sperms with fluorescence sig-nals,the hybridization rate was 99.64%;There were 5992 sperms counted in the patients with idiopathic oligozo-ospermia,5860 sperms with fluorescence signals,the hybridization rate was 97.80%.The frequency of aneuploidy in the control group was significantly lower than that in the patients with idiopathic oligozoospermia (1.36%vs 4.54%,P<0.01). Conclusion Patients with idiopathic oligozoospermia have a higher frequency of aneuploidy of chromosome X and Y in spermatozoa;Dual-color FISH is of greater value in the determination of the aneuploidy of chromosome X and Y in spermatozoa in patients with idiopathic oligozoospermia .