应用双色荧光原位杂交技术诊断性染色体异常疾病  

Diagnosis of sex chromosome abnormality by dual-colour fluorescence in situ hybridization.

作　　者：赵丽[1] 李红[1] 薛永权 潘金兰 徐新红[1] 

机构地区：[1]苏州大学附属第一人民医院妇产科,苏州215006 [2]江苏省血液研究所

出　　处：《中国优生与遗传杂志》2004年第4期50-51,53,F002,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的　探讨双色荧光原位杂交技术 (FISH)对性染色体异常诊断的价值。方法　应用X、Y染色体着丝粒探针对 2 9例常规染色体分析疑有性染色体异常患者的外周血或间期细胞进行杂交。结果　 2 9例均证实有性染色体异常 ,其类型包括 :4 5 ,X(10 )、4 5 ,X/46 ,XX(2 )、4 5 ,X/46 ,Xr(X) (1)、4 7,XXY(13)、4 7,XYY(2 )和 4 7,XXX(1)等多种。结论　FISH技术可以准确而快速地诊断性染色体的异常 。Objective: To evaluate the value of dual-colour fluorescence in situ hybridization (FISH)to the diagnosis of sex chromosome abnormality. Methods: (-satellits DNA probe of X、Y chromosome were used to FISH with blood samples from 29 patients who were suspected having sex chromosome abnormality by conventional cytogenetics. Results: The karyotypes 45,X(10)、45,X/46,XX(2)、45,X/46,Xr(X)(1)、47,XXY(13)、47,XYY(2)and 47,XXX(1) were detected by dual-colour FISH. Conclusion Dual-colour FISH can precisely and rapidly detect the sex chromosome abnormalityies. Thus it is a necessary complement to the conventional cytogenetics.

关 键 词：荧光原位杂交 双色 性染色体异常 

分 类 号：R596.12[医药卫生—内科学]