目的荧光原位杂交法(Fluorescence In Situ Hybridization, FISH)分析复发性流产夫妇中男方精子X,Y以及18号染色体的非整倍体的情况.方法病例组为复发性流产夫妇中男性患者40例,对照组为5例正常射出精液者并女方已经正常怀孕的男性.应用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.结果复发性流产夫妇中病例组精子与对照组精子比较,一共计数734745个精子,杂交率99.18%.双体类型为XX18、XY18、YY18、X1818、Y1818.病例组各类双体率分别为(0.641±0.032)%、(0.752±0.023)%、(0.549±0.034)%、(0.342±0.746)%、(0.324±0.054)%.对照组各类双体率为(0.035±0.002)%、(0.015±0.003)%、(0.021±0.004)%、(0.034±0.003)%、(0.032±0.009)%.病例组的非整倍体率8.85%,对照组为2.34%(P<0.01).结论复发性流产夫妇中病例组精子比正常精子具有更高的染色体非整倍体率,说明复发性流产与男性的染色体非整倍体率有关,可为流产患者的治疗和遗传咨询提供有效的证据.%Objective To analyze the numerical aberration of chromosome X, Y, and 18 in the spermatozoa of recurrent abortion patients by fluorescence in situ hybridization(FISH). Methods Forty recurrent abortion male patients (the experiment group) and 5 healthy men with normal semen quality and having a good healthy baby(the control group) were enrolled in the study. The frequencies of the aneuploid of the chromosomes X ,Y and 18 in sperm atozoa were determined by fluorescence in situ hybridization. Results Of the 734,745 sperm counted from semen samples, the hybridization rate was 99.18%.The frequencies of chromosome disomies including XX18, XY18, YY18 , X1818 and Y1818 were(0.124±0.086)%,(0.360±0.380)%, (0.109± 0.195)%, (0.342±0.746)%and (0.299±0.564)%respectively in the experiment group, and (0.014 ±0.019)%, (0.090±0.080)%, (0.030±0.031)%, (0.068±0.103)%and (0.075±0.083)%in the contro1group. The sperm aneuploid rate was 8.85% and 2.34%in the experiment group and the control group (P<0.01). Conclusion Aneuploid rate of sperm chromosome of recurrent abortion patients was higher than that of normal fertile men. It indicated that there existed a relationship between sperm cell chromosome aneuploid and recur-rent abortion, which provided effective proof for better treatment and genetic counseling of abortion patients.
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