用荧光原位杂交技术显示染色体易位(英文)

Delineation of chromosome translocations by fluorescence in situ hybridization

目的 :应用荧光原位杂交技术 (fluorescence in situ hybridization,FISH)对 G显带提示有染色体易位的病例进行分析 ,阐明易位本质。 方法 :以定位于待研究染色体区段的酵母人工染色体 (yeast artificialchrom osom e,YAC)作为 DNA来源 ,采用 DOP- PCR(degenerate oligonucleotide- primed,PCR)方法制备荧光标记的位点特异性探针 ,进行染色体原位杂交。结果 :两例经 G显带未能明确显示的染色体结构异常 ,经 FISH证实 ,一例为发生于 11号染色体与 13号染色体之间的平衡易位 ;另一例为发生于 6号染色体与 X染色体之间的不平衡易位。结论 :FISH技术以其高度的灵敏性及特异性 ,成为常规染色体显带技术的一个重要补充 ,特别适用于对微小染色体结构重排以及染色体片段起源的阐明。

Objective: To delineate the G banding suggested chromosome translocations by fluorescence in situ hybridization (FISH) technique. Methods: Locus specific probes, generated by degenerate oligonucleotide primed PCR (DOP PCR) technique from yeast artificial chromosomes (YACs) mapping the regions in question, were used for FISH tests. Results: Among the 2 cases unresolved by G banding, FISH confirmed that one had a balanced translocation between chromosome 11 and chromosome 13, the other had an unbalanced translocation between chromosome 6 and chromosome X.Conclusion: Because of its high sensitivity and specificity, FISH technique is a powerful adjunct to chromosome banding techniques, particularly for the delineation of subtle chromosome rearrangement(s) and the origin of segment(s). [