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应用荧光原位杂交技术对1例46,XY,inv(7) (p13q11)携带者精子非平衡染色体的分析

孙晓岩1,罗海宁1,崔险峰1,张云山2   

  1. 1. 天津市中心妇产科医院
    2. 天津市中心妇产科医院生殖医学中心
  • 收稿日期:2011-07-19 修回日期:2011-10-28 出版日期:2012-02-15 发布日期:2012-02-15
  • 通讯作者: 孙晓岩

Unbalanced Chromosome Analysis of Sperm in a case of 46,XY,inv(7) (p13q11) by Fluorescence in situ hybridization

  • Received:2011-07-19 Revised:2011-10-28 Published:2012-02-15 Online:2012-02-15

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摘要： 摘要 目的：探讨男性染色体臂间倒位对精子染色体的影响。方法：采用荧光原位杂交技术对1例46,XY,inv(7) (p13q11)携带者的附睾穿刺精子和2例核型正常男性精子的7号染色体进行检测。结果：该患者的非平衡精子比例为25.2%，正常男性的异常精子比例为1.2%。结论：染色体臂间倒位携带者精子非平衡染色体发生率较正常男性明显增高，由于染色体异常胚胎着床率低且在妊娠早期极易流产，所以为了提高妊娠率、降低流产率，该类人群进行辅助生殖治疗时建议进行胚胎植入前遗传学诊断。

关键词: 臂间倒位, 荧光原位杂交, 精子, 非平衡染色体, 附睾穿刺

Abstract: Abstract Objective: To explore the flourence of pericentric inversion on spermatozoa chromosome. Methods:Fluorescence in situ hybridization(FISH) with TelVysion 7q、TelVysion 7p probes on 1000 spermatozoa for a 46,XY,inv(7) (p13q11) carrier. Results:The FISH analysis using the specific probes for the pericentric inversion indicated high disequilibrium(25.2%),while the normal men with 1.2%. Conclusion: Pericentric inversion is associated with a high risk of recombination sperm.It is difficult for chromosomally unbalenced embryos to implantation.Even if the abnormal embryo is conceived,it is tended to be miscarriaged at the early pregnancy.To improve the rate of pregnancy and reduce abortion,it is very important for couples with men heterozygous for this inversion to proceed preimplantation genetic diagnosis(PGD).

Key words: heterozygous pericentric inversion, FISH, spermatozoa, unbalanced chromosome, epididymal puncture