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目的探讨子代染色体非整倍体形成与着丝粒蛋白(CENP)表达及其双亲染色体CENP表达的关系。方法以染色体非整倍体流产绒毛为研究组,以染色体正常绒毛为对照组。应用染色体G显带技术及免疫组化技术,对每例标本及其流产夫妇双方进行染色体核型分析及CENP检测。结果①染色体正常夫妇的流产绒毛的染色体非整倍体发生率为44.78%,在非整倍体中性染色体异常发生率最高,占40.00%,其次21-三体综合征,占23.33%,②两组流产绒毛染色体中均有CENP的表达,且研究组显著低于对照组(t=3.012,P<0.05)。研究组非整倍体绒毛染色体中CENP含量与其父方外周血染色体的比较有显著性差异,前者显著低于后者(t=4.279,P<0.05),而与母方的差异无统计学意义(t=1.927,P>0.05)。对照组正常绒毛与其父方外周血染色体CENP含量比较有显著性差异,前者CENP含量显著低于后者(t=3.008,P<0.05),而与母方的差异无统计学意义(t=1.234 P>0.05)。结论 CENP含量降低可能是染色体着丝粒不分离造成非整倍体形成的原因之一,且CENP的含量与其母亲具有一定的同源性、相似性。
Objective To explore the relationship between the formation of aneuploidy of centromere and centromere protein (CENP) expression and CENP expression of their parents. Methods The aneuploid aneuploidy was used as the research group and the normal chromosome was used as the control group. Using chromosome G banding technique and immunohistochemistry, chromosome karyotype analysis and CENP detection were performed on each sample and its abortion couples. Results ① The incidence of aneuploidy was 44.78% in the normal chorionic descent couples, 40.00% in the aneuploidy, followed by 21.3 trisomy, accounting for 23.33%, ② CENP expression was observed in both groups of abortion chorion, and the study group was significantly lower than the control group (t = 3.012, P <0.05). There was a significant difference between the two groups in the content of CENP in aneuploid villous chromosomes of the study group and that of its parental group (t = 4.279, P <0.05), while there was no significant difference between the two groups = 1.927, P> 0.05). The content of CENP in the control group was significantly lower than that in the parental group (P <0.05), while there was no significant difference with the parental group (t = 1.234 P> 0.05). Conclusion The decrease of CENP may be one of the causes of aneuploidy caused by the non-separation of chromosome centromere, and the content of CENP has some homology and similarity with its mother.