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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 analyze the cases of G-banding suggesting chromosomal translocations by fluorescence in situ hybridization (FISH) to clarify the nature of translocation. Methods: Yeast artificial chromosomes (YACs) located in the chromosome segment to be studied were used as DNA sources. DOP-PCR (degenerate oligonucleotide-primed, PCR) was used to prepare fluorescently labeled site- Chromosome in situ hybridization. RESULTS: Two cases of chromosomal abnormalities that were not clearly shown by G-banding were confirmed by FISH. One case occurred in the equilibrium translocation between chromosome 11 and chromosome 13, and the other occurred in chromosome 6 and X chromosome The imbalance between the translocation. Conclusion: FISH technique is an important supplement to conventional chromosome banding technique because of its high sensitivity and specificity. It is especially suitable for the elucidation of the structure rearrangement of microchromosomes and the origin of chromosome fragments.