应用G显带染色体荧光原位杂交（FISH）技术研究复杂的染色体易位  

A Study on Complicated Chromosome Translocation by Fluorescence in situ Hybridization(FISH)of G-banded Chromosomes

作　　者：黄浩杰[1] 张锡然[1] 陈宜峰[1] 崔英霞[1] 

机构地区：[1]南京师范大学生物系,南京军区南京总医院遗传室,复旦大学遗传学研究所

出　　处：《Acta Genetica Sinica》1996年第5期338-342,共5页

摘　　要：建立常规Ｇ显带染色体标本的荧光原位杂交（ＦＩＳＨ）技术，用于分析患者复杂的染色体易位。原位杂交前，用甲醛固定Ｇ显带标本，是获得良好显带和荧光杂交效果的关键步骤。仅用常规细胞遗传学方法分析，显示一例习惯性流产患者的核型为４６，ＸＸ，ｔ（１；５；１２）（１ｐｔｅｒ→１ｑ２５：：１２ｑ２４→１２ｑｔｅｒ；５ｑｔｅｒ→５ｐ１１：：１ｑ２５→１ｑｔｅｒ，１２ｐｔｅｒ→１２ｑ２４：．５ｐ１１→５ｐｔｅｒ），而采用本方法确定患者的核型实际为４６，ＸＸ，ｔ（１；５，１２）（１ｐｔｅｒ→１ｑ２３：：１２ｑ２２→１２ｑｔｅｒ，５ｑｔｅｒ→５ｐ１１：：１ｑ２５→１ｑｔｅｒ；１２ｐｔｅｒ→１２ｑ２２：：１ｑ２３→１ｑ２５：５ｐ１１→５ｐｔｅｒ）。结果表明，新建立的Ｇ显带染色体荧光原位杂交（ＦＩＳＨ）技术能更有效地检测患者复杂的染色体易位。An experimental method of fluorescence in situ hybridization (FISH) with conventionally G-band chromosomes was developed to analysize the complex chromosome rearrangements of patients. In order to obtain optimal results of both G-banding and fluoresence signals, it was essential that G- bandsed chromosomes were fixed with formaldehyde prior to fluorescence in situ hybridization. The karyotype of a patient with spontaneous abortion might be decribed as 46, XX,t(1;5; 12) (lpter→lq25: :12q24→ 12qter; 5qter→5p11: :1q25→lqter; 12pter→12q24: :5pl l→5pter) by the analysis of conventional cytogenetics. However, her karyotype should be identified as 46, XX,t(1;5; 12) (lpter→lq23: :l2q22→12qter; 5qter→5pl l: :lq25→lqter; 12pter→12q22: :lq23→ lq25: :5p11→5pter ) with this newly established method. This investigation indicates that this technique described above is a powerful tool to detect complex chromosome rearrangements of patients.Present address: Institute of Genetics, Fudan University, Shanghai 200433 .

关 键 词：染色体 易位 荧光原位杂交 染色体G显带 

分 类 号：Q343.24[生物学—遗传学]