遗传 ›› 2006, Vol. 28 ›› Issue (2): 148-152.

• 研究报告 • 上一篇    下一篇

一例特殊inv(Y)形成机理的研究

周 波1;唐艳平2; 刘永章1   

  1. 1. 温州医学院生命科学院生物系,温州325035;2. 华中科技大学同济医学院生物系,武汉430030
  • 收稿日期:2005-02-28 修回日期:2005-05-18 出版日期:2006-02-10 发布日期:2006-02-10
  • 通讯作者: 刘永章

Mechanism of the Formation of a Special inv(Y): A Case Study

ZHOU Bo1, TANG Yan-Ping2, LIU Yong-Zhang1
  

  1. 1. Department of Biology, College of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325035,China;
    2. Department of Biology, Tongji Medicl College, Huazhong University of Sci & Tech, Wuhan, Hubei 430030,China
  • Received:2005-02-28 Revised:2005-05-18 Online:2006-02-10 Published:2006-02-10
  • Contact: LIU Yong-Zhang

摘要:

 
应用双色荧光原位杂交的方法,国内首次报道一例特殊inv(Y)异常的性质,探讨Y染色体倒位结构异常的形成机理以及与习惯性流产临床表型的关系。应用 Biotin-11-dUTP标记的Y染色体短臂断裂点Yp11.3探针(编号889)和CY3标记的Y染色体长臂断裂点Yq12远端异染色质区探针(编号PY3.4),对1例G显带核型分析为[46, XY(90%) / 46, X, inv(Y)(p11.3;q12)]的平衡易位携带者进行双色荧光原位杂交研究。双色FISH结果显示,该易位携带者异常核型比例为22%,稍高于G显带分析中确定的比例。而且,除G显带检测出的倒位类型外,又有两种类型的倒位,其中涉及到常规显带技术难以检测出的染色单体型倒位。3种倒位类型的存在说明该患者inv(Y)断裂点呈不均一性。FISH技术是一种能准确可靠检测出染色体倒位形成的重要手段。
 
 
 
 
 
 

关键词: 荧光原位杂交, 倒位, 习惯性流产

Abstract:

We report for the first time in China, the characterization of a special abnormal inv(Y) with dual-color fluorescence in situ hybridization (D-FISH). We also study the mechanism of the formation of chromosome Y inversion and its relationship with the phenotype of recurrent spontaneous abortion. Using biotin-11-dUTP-labeled Yp11.3 breakpoint probe (No. 889) and CY3-labeled Yq12 heterochromatic region DNA probe (PY3.4), we performed D-FISH on a balanced translocation carrier with a [46,XY(90%)/46, X, inv(Y)(p11.3;q12)] karyotype determined by G-banding karyotyping, whose wife had recurrent miscarriages. The result of D-FISH shows that the percentage of cells with abnormal karyotypes is about 22%, higher than that determined by G-banding analysis. Moreover, besides the type of inversion diagnosed by G-banding, there are the two other abnormal karyotypes, including a type of chromatid inversion, which is difficult to be detected by conventional G-banding technique. The present of the three types of inversion confirms that the breakpoints of inv(Y) are heterogeneous. D-FISH is a powerful tool for the detection of chromosomal inversion due to its sensitivity and specificity.

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