摘要目的 探讨荧光原位杂交(fluorescence in situ hybridization,FISH)及细菌人工染色体荧光原位杂交(bacterial artificial chromosome FISH,BAC-FISH)在鉴定标记染色体来源及结构方面的应用价值.方法 对16例经核型分析提示带有标记染色体的患者,进一步应用FISH等技术确定其来源和结构.结果 经分析16例患者所携带的标记染色体来源分别为:der(Y)2例、psu dic(Y)1例、psu dic(15)1例、dic(15)1例、del(Y)1例、r(X)5例、i(14 or 22)2例、i(15)1例以及i(18)1例.结论 FISH技术有助于提高对于标记染色体的识别能力.综合应用FISH和BAC-FISH等检测技术可为携带标记染色体患者的诊断和治疗提供准确的遗传学依据.

abstractsObjective To assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes.Methods Sixteen patients with marker chromosomes were analyzed with technologies including GTG-banding,Q-banding,multiplex FISH and BAC-FISH.Results The marker chromosomes in the 16 patients were verified as der(Y) (2 cases),psu dic(Y) (1 case),psu dic(15) (1 case),dic(15) (1 case),del(Y) (1 case),r(X) (5 cases),i(14 or 22) (2 cases),i(18) (1 case).Conclusion FISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.