Y染色体微缺失和精子染色体非整倍体与不育关系的探讨

Exploration on the Relationship between Infertility and Y Chromosome Microdeletion as well as Spermatozoa Chromosome Aneuploid

目的:探讨Y染色体AZF区微缺失和精子染色体非整倍体与男性不育的关系。方法:采用多重PCR-凝胶电泳技术对32例男性不育患者AZF4个区15个序列标签位点(STS)进行微缺失检测,并应用X、Y、18号染色体探针对其中16例弱精子症患者和8例健康男性进行三色荧光原位杂交,分析精子染色体非整倍体。结果:32例患者中4例在AZF区有微缺失,缺失率12.5%。病例组计数47691个精子,对照组计数28952个精子,杂交率分别为99.53%和99.93%。非整倍体主要类型为YY18、XX18、XY18、Y1818和X1818。病例组依次为(0.102±0.154)%、(0.103±0.073)%、(0.273±0.278)%、(0.381±0.493)%和(0.318±0.585)%,非整倍体率为5.64%;对照组则为(0.050±0.040)%、(0.030±0.031)%、(0.098±0.080)%、(0.093±0.087)%和(0.085±0.106)%,非整倍体率为4.28%,两组之间差异有统计学意义(P<0.01)。结论:Y染色体AZF区域发生微缺失和精子染色体非整倍体增加可能是男性不育的重要病因之一。

Objective： To explore the relationship between male infertility and AZF microdeletion on Y chromosome as well as spermatozoa chromosome aneuploid.Methods： Multiplex polymerase chain reaction（PCR）-gel electrophoresis technique was used to examine the microdeletion in 15 sequence tagged sites（STS） of 4 regions on AZF among 32 patients with male infertility.Triple-color fluorescence in situ hybridization was applied to analyze the spermatozoa chromosome aneuploid using X,Y and 18 chromosome probes among 16 asthenospermia patients from the 32 objects mentioned above and 8 healthy men.Results： 4 cases（12.5%） of the 32 patients were observed AZF microdeletion.47,691 spermatozoa were counted from the case group and 28,952 spermatozoa were counted from the control group,with the hybridization rates 99.53% and 99.93%,respectively.The major types of aneuploid were YY18,XX18,XY18,Y1818 and X1818.The frequencies of aneuploid in the case group were respectively（0.102±0.154）%,（0.103±0.073）%,（0.273±0.278）%,（0.381±0.493）% and（0.318±0.585）%,with the total rate of aneuploid 5.64%.In contrast,the frequencies of aneuploid in the control group were respectively（0.050±0.040）%,（0.030±0.031）%,（0.098±0.080）%,（0.093±0.087）% and（0.085±0.106）%,with the total rate of aneuploid 4.28%.The differences between this 2 groups were significant（P〈0.01）.Conclusion： AZF microdeletion on Y chromosome and the increase of spermatozoa chromosome aneuploid may be the important etiological factors for male infertility.