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、psudie(Y)1例、psudic(15)1例、dic(15)1例、del(Y)1例、r(X)5例、i(14or22)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。
Objective 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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第4期415-419,共5页
Chinese Journal of Medical Genetics
基金
福建省科技项目计划重点项目(2012D066)
关键词
标记染色体
荧光原位杂交
细菌人工染色体
Marker chromosome
Fluorescence in situ hybridization
Bacterial artificialchromosome