天津医药

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生殖异常姐妹的基因组拷贝数变异研究

刘沙沙1,李克秋1,马君静2,赵玉霞1,李光3   

  1. 1. 天津医科大学
    2. 天津市静海县计划生育服务站
    3. 天津医科大学医用生物学教研室
  • 收稿日期:2011-12-01 修回日期:2012-01-03 出版日期:2012-02-15 发布日期:2012-02-15
  • 通讯作者: 李光

The study of the copy number variations in the two sisters with the reproductive abnormalities

  • Received:2011-12-01 Revised:2012-01-03 Published:2012-02-15 Online:2012-02-15

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摘要： 目的：通过对出现生殖异常姐妹的基因组拷贝数变异情况的研究，探讨基因组拷贝数变异与环境污染物——苯对生殖健康的影响。 材料和方法：选取1个家系，包括从事苯作业2年后出现生殖异常的姐姐和妹妹，及她们的弟弟和儿子。采集外周血，进行核型分析、微核试验和比较基因组杂交芯片研究，并用荧光定量PCR技术分析姐妹芯片结果中出现的共同缺失区域中的PSG家族的4个典型基因。 结果：5个人的染色体G显带核型未发现异常。姐妹的微核率高于另外3个人，且高于正常范围。基因芯片的结果显示，姐妹在19q13.31区域存在1个共同的缺失区域。PCR结果与芯片结果相一致。 结论：PSG基因在正常妊娠中起一定作用；单倍体更易受到外界环境因素的影响；苯作为环境污染物，严重影响人类健康。

关键词: 苯, 微核试验, 比较基因组杂交芯片, PSG

Abstract: Purpose Through the study of the copy number variations in the two sisters with reproductive abnormalities, we discussed the influence of the genome copy number variations and environmental pollutant---benzene on the reproductive abnormalities. Materials and Methods The current study centered on a family, including two sisters with the reproductive abnormalities after working with benzene for two years, their brother, and their sons. The peripheral blood was collected; then Karyotyping, cytokinesis-block micronucleus and array comparative genomic hybridization were performed, as well as the four typical genes of PSGs in the common lost region of two sisters’ chip results were analyzed by real-time polymerase chain reaction. Results There are no abnormalities on the chromosomal G-bands of the five people. The micronuclear rates of the two sisters are higher than those of the other three subjects and normal range. The results of the gene-chips revealed that the two sisters have a common lost region in 19q13.31. The results of real-time PCR and chips were consistent with each other. Conclusion PSGs play a role in normal pregnancy; person with haploid is more vulnerable by environmental factors; benzene as an environmental pollutant seriously affects human health.

Key words: Benzene, CBMN, aCGH, PSG