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目的探讨染色体着丝粒点(Cd)结构变异和着丝粒蛋白(CENP)表达与染色体非整倍体形成的关系。方法以流产绒毛染色体非整倍体者为研究组,以流产绒毛染色体正常者为对照组,同时抽取流产者夫妇外周血进行染色体制备。应用染色体G显带技术、改良的着丝粒点-核仁组织区(Cd-NOR)同步银染方法及免疫组化技术,对每例标本进行染色体分析及Cd、CENP研究。结果①研究组染色体Cd变异显著高于对照组(P<0.05);研究组绒毛染色体非整倍Cd变异显着高于父方(P<0.05),而与母方无统计学意义(P>0.05);对照组绒毛染色体Cd变异与双亲间无显著差异(P>0.05)。②两组流产绒毛染色体中均有CENP的表达,研究组显著低于对照组(P<0.05)。研究组非整倍体绒毛中CENP含量显著低于父方(P<0.05)而与母方比较无统计学意义(P>0.05)。对照组绒毛CENP含量显著低于父方CENP(P<0.05),与母方比较无统计学意义(P>0.05);③两组CENP的含量与Cd变异呈负相关。结论 Cd变异、CENP含量降低可能是造成着丝粒不分离形成非整体的原因之一;Cd变异、CENP与其母亲具有一定的同源性、相似性;Cd变异越高CENP含量越低。
Objective To investigate the relationship between chromosome centromere (Cd) structure variation and centromere protein (CENP) expression and chromosomal aneuploidy formation. Methods Abortion anemia chromosome aneuploidy as the research group, with normal human hair loss chorionic villi as control group, at the same time to extract the peripheral blood of abortion couples for chromosomal preparation. The chromosomal analysis and Cd, CENP of each sample were studied by G-banding technique, modified Cd-NOR synchronous silver staining and immunohistochemistry. Results ① The Cd variation in the study group was significantly higher than that in the control group (P <0.05). The variation of aneuploidy in the study group was significantly higher than that in the father (P <0.05), but not in the mother (P> 0.05) There was no significant difference in chromosomal Cd variation between controls and parents (P> 0.05). ② CENP expression in both groups of abortion chorionic villus, the study group was significantly lower than the control group (P <0.05). The content of CENP in aneuploid villi of the study group was significantly lower than that of the parental group (P <0.05), but there was no significant difference between the two groups (P> 0.05). The content of CENP in the control group was significantly lower than that of the parental CENP (P <0.05), and there was no significant difference between the two groups (P> 0.05). Conclusions The variation of Cd and the decrease of CENP content may be one of the reasons for the non-segregation of centromere formation. Cd variation, CENP and their mothers have some homologies and similarities. The higher the variation of Cd, the lower the content of CENP.