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探讨染色体非整倍体形成与CENP变化的关系

Relationship between the variations of centromere protein and aneuploid

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【作者】 阎惠娜张月莲郑梅玲化爱玲张桂林贺江梅王晶晶

【Author】 YAN Hui-na,ZHANG Yue-lian,ZHENG Mei-ling,et al.(Departement of Medical Genetics,First Teaching Hospital,Shangxi Medical University.Taiyuan,030001)

【机构】 山西医科大学第一医院妇产科

【摘要】 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。

【Abstract】 Objectives: In order to explore the relation between embryos of aneuploid occurrence and their parents,this paper investigated the variations of CENPs of them.Methods: there are two groups,the test group are chromosome of aneuploid embryos which were been diagnosed had stopped growth and the chromosome of their parents,the compare group are the embryos which are chromosome of normal and the chromosome of their parents,The peripheral blood lymphocyte chromosome specimens were made with the routine chromosomal technique,G-band were developed.useing the technique of immunhitehmisty to get the CENPs.all the cases have whole data of G-band technique.Results : ① The rate of aneuploid chorion chromosome in study group was 44.78%,Among 30 cases with karyotype disorder,12 cases of sex chromosome take 40.00% of the cases.7 cases of 21-trisomy syndrome take 23.33% of the cases.②The test group and the compare group chromosome both have CENPS.And the CENPS of the test group was much lower than the compare group.t = 3.012 P < 0.05).the CENPS of the test group was much lower then their paternal group(t = 4.279 P < 0.001),No significant difference between the test group and their maternal group.(t = 1.927 P > 0.05);The CENPS of the compare group was much lower then their paternal group(t = 3.008 P < 0.05),No significant difference between the test group and their maternal group.(t = 1.234 P > 0.05).Conclusions: Less CENPS are closely related to aneuploid occurrence,and contents of CENPS may come from the maternal group,in order to offer evidences of the genetics between descendants and their mothers

【基金】 山西省高校科技研究开发项目(编号:20101140)
  • 【文献出处】 中国优生与遗传杂志 ,Chinese Journal of Birth Health & Heredity , 编辑部邮箱 ,2013年07期
  • 【分类号】R714.7
  • 【被引频次】1
  • 【下载频次】74
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