The Detection Of Novel Fusion Genes Related With The AML1 Gene And The Breakpoints

0bjective To detect the novel partner genes of AML1 gene and determine the breakpoints, on the basis of B/C method.Method (1) The partner genes of AML1 gene were detected in 21 patients from B/C method by 3'-RACE and direct sequencing. (2) With reverse transcriptase-polymerase chain reaction(RT-PCR), the breakpoints of new fusion gene about with the AML1 gene were determined, and the frequency of the new fusion gene was analyzed preliminarily.Result (1) Of 21 patients from B/C method, one novel fusion gene was detected. It occurred on the exon 5 of AML1 gene and the exon 1 of PRP38A gene on chromosome 1, to forming the AML1-PRP38A fusion gene. The diagnosis of the patient was AML-M4. (2) It confirmed the expression and the truncation site of this new fusion gene. (3) We have not detected the AML1-PRP38A fusion gene in 40 acute myeloid leukemia patients (except M3) with AML1-ETO negative.Conclusion Here it reports a novel fusion gene, that is AML1-PRP38A. In addition to more than 20 partner genes associated with AML1 gene had been reported, there are novel fusion genes of AML1 gene have not been detected. The AML1-PRP38A fusion gene was expressed in AML patients, but the frequency is very low.