DNA片段长度分析检测急性髓性白血病CEBPA基因突变.pdfVIP

64 () 2011 1 5 1 C hin J C lin ician s(E lect on ic Ed ition ), Janua y 1, 2011, V o.l 5, N o. 1 DNA CEBPA 阮国瑞 牛继红 李玲娣 张瑶 李金兰 秦亚溱 赖悦云 刘艳荣 许兰平 黄晓军 陈珊珊 ( AM L) CCAAT A ( CEBPA ) ( PCR) 107 AM L CEBPA 38 107 AM L 38 CEBPA , , 107 AM L 22 CEBPA , 4 2 CEBPA , 18 1 CEBPA , 38 CEBPA , CEBPA CEBPA , AM L , , ; CCAAT ; ; , DNA DNA fragment length analysis for screening of CEBPA mutations in acutemyeloid leukaemia R UAN Guorui, N IU Jihong, LI L ingd ,i ZHANG Yao, LI Jinlan, QIN Yazhen, LA I Yueyun, LIU Yanrong, X U Lanp ing, H UAN G X iaojun, CHEN hanshan. Institu te of H ematology, P eking University P eop lesH osp ital, Beij ing 100044, China Correspond ing author: R UAN Guorui, Emai:l ruanguoru@i pkuph. edu. cn Abstract Objective To establish a ap id sc een ing m ethod fo CEBPA ( CCAATEnhance B inding P o teinalpha, CEBPA ) m utations. M ethods W e de tected m utations th oughout the enti e coding egion of the CEBPA gene in 107 unt eated AM L patients us ing po lym e ase chain eaction ( PCR) fo llowed by sequence ana ly sis and f agm ent leng th ana lysis. Th i tyeight no m a l dono s f om the a llog eneic stem ce ll t ansplan tation w e e se ved as cont o l. Results W e eva luated the app oach by analysing 107 AM L patient and 38 no ma l samp les by bo th f agment length analysis and nucleotide sequencing. Twentywt o cases w ith CEBPA mu tation w e e found in 107 AM L patients afte exc lud ing all known CEBPA po lymo ph ism s. Of 4 CEBPA muta ted pa tien ts had two muta tions and 18 pa tients had a sing le m utation. N o muta tion w as found in 38 no m al sam ples. CEBPA mu tation detection by f agm ent leng th ana lysis is sensitive and efficient when compa ed to nucleotide sequencing. Conclusions W e