用间期细胞FISH技术快速分析性腺发育不全患者的性染色体数目异常  

Rapid detection of numerical sex chromosome abnormality on male gonad agenesis by interphase FISH

作　　者：刘青杰[1] 封江彬[2] 陆雪[2] 王晓维[1] 刘奡 马芬[1] 姚素艳[2] 沈岩[1] 

机构地区：[1]国家人类基因组北方研究中心,100176 [2]中国疾病预防控制中心辐射防护与核安全医学所,100088

出　　处：《中国优生与遗传杂志》2004年第1期32-33,F003,共3页Chinese Journal of Birth Health & Heredity

基　　金：教育部留学回国人员科研启动基金项目 ( 2 0 0 1-4 98);国家 863计划项目 ( 2 0 0 3AA2 2 10 81)

摘　　要：目的　探索用间期细胞FISH快速分析男性性腺发育不全患者染色体数目异常的方法。方法　应用生物素和地高辛分别标记X染色体特异性人工细菌染色体 (BAC)DNA以及Yq12区域重复序稽pY3.4DNA ,对 15例男性性腺发育不全患者外周血淋巴细胞间期核进行双色荧光原位杂交 (FISH)分析。结果　淋巴细胞间期核FISH和常规染色体分析结果一致 ,可发现 4 7,XXY、4 6 ,XX和 4 6 ,XY/ 4 7,XXY嵌合体等。结论　间期双色FISH可以快速分析男性性腺发育不全患者的性染色体数目异常 ,为临床诊断提供依据。Objective: To explore the interphase fluorescence in situ hybridization (FISH) method to rapidly detect the numerical sex chromosome abnormality of gonad agenesis patients. Methods: X specific BAC (bacterial artificial chromosome) DNA and pY3.4 DNA were labeled with biotin-14-dATP or digoxigenin-11dUTP, respectively. Two colors interphase FISH was used to analyze the lymphocytes of gonad agenesis patients. Results: The result of interphase FISH method on gonad agenesis was in good agreement with that of traditional chromosome analysis, no matter 47,XXY?46,XY/47,XXY or sex reverse. Conclusion: The two colors interphase FISH method could be used to rapidly detect the numerical sex chromosome abnormality of gonad agenesis.

关 键 词：间期荧光原位杂交 性腺发育不全 染色体数目异常 

分 类 号：R394[医药卫生—医学遗传学]