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目的 对 2岁以下的婴儿急性白血病作临床和分子生物学特点的研究。方法 用R带和 (或 )G带分带技术进行核型分析 ,DNA印迹法检测HRX重排 ,聚合酶链反应和逆转录 聚合酶链反应进行融合基因检测。结果 2 0例患者经检测后其中 10例有HRX基因重排 ,该 10例作融合基因检测 ,5例是AF 4 HRX ,2例是AF 9 HRX ,1例是HRX ENL ,1例是HRX自我融合 ,1例是未曾报告过的命名为HRX EEN的融合基因。结论 婴儿急性白血病有高发的HRX基因重排 ,尤其以形成AF 4 HRX融合基因更多见 (5 0 % ) ,这对指导临床治疗和进一步的病因学研究有重要意义。
Objective To study the clinical and molecular biological characteristics of infant acute leukemia under 2 years of age. Methods Karyotyping was performed by R band and / or G banding technique. HRX rearrangement, polymerase chain reaction and reverse transcription polymerase chain reaction were used to detect the fusion gene by Southern blotting. Results Twenty patients were detected HRX gene rearrangement in 10 cases. The 10 cases were tested for fusion gene, 5 cases were AF 4 HRX, 2 cases were AF 9 HRX, 1 case was HRX ENL and 1 case was HRX self Fusion, one case was a never reported fusion gene named HRX EEN. Conclusions There is a high incidence of HRX gene rearrangements in infant acute leukemia, especially in the formation of AF 4 HRX fusion gene (50%), which is of great importance in guiding clinical treatment and further etiological studies.