常见染色体病的快速检测  

Rapid detection of common chromosome aneuploidies by multiplex ligation-dependent probe amplification/ denaturing high performance liquid chromatograghy

作　　者：曹美婷[1,2] 贾兴元[1,3] 刘迁[1] 卫小静[1,2] 王立荣[3] 郑梅玲[2] 刘敬忠[1] 

机构地区：[1]首都医科大学附属北京朝阳医院实验研究中心,北京100020 [2]山西医科大学第一临床医学院遗传研究室,山西太原030001 [3]中国医学科学院中国协和医科大学基础医学研究所医学遗传室,北京100005

出　　处：《诊断学理论与实践》2010年第5期449-452,共4页Journal of Diagnostics Concepts & Practice

基　　金：北京市自然科学基金(7092034)

摘　　要：目的:初步建立运用多重连接探针扩增(MLPA)联合变性液相高效色谱(DHPLC)技术快速诊断常见染色体非整倍体的方法。方法:应用P095试剂盒将待测DNA标本进行MLPA反应,得到的MLPA反应产物用DHPLC仪进行分离分析,并于用ABI3130XL得到的结果加以对比。结果:检测了10份正常人DNA和16份21三体DNA、3份47,XYYDNA、3份47,XXXDNA标本,结果与用MLPA/ABI3130XL检测及染色体核型分析结果一致。结论:用1管MLPA反应结合DHPLC即可对常见染色体非整倍体作出快速、准确的诊断。Objective To find a simple and rapid method for detecting common chromosome aneuploidies by using multiplex ligation-dependent probe amplification （MLPA）/denaturing high performance liquid chromatograghy （DHPLC） technique. Methods Using SALSA MLPA Kit-P095, the MLPA reaction products of DNA sample were separated and analyzed by DHPLC, and the results obtained were compared with that determined by ABI 3130XL. Results DNA samples from 10 normal people,16 patients with 21-trisome,3 patients with 47,XYY,3 patients with 47,XXX were tested. The results obtained were identical with the results obtained by ABI 3130XL and the results of karyotyping. Conclusions DHPLC could be used to separate and analyze the MLPA products to rapidly identify the common chromosome aneuploidies.

关 键 词：染色体非整倍体 变性液相高效色谱 多重连接探针扩增 

分 类 号：R394[医药卫生—医学遗传学]