Transcription Factor Pu.1 Gene In Acute Myeloid Leukemia Gene Mutation Analysis And Mrna Expression Studies

Objective To study the relationship between AML and transcriptionfactor PU.1 by detecting PU.1 gene mutation and mRNA expression in patientswith AML. Methods The mutations of PU.1 gene were detected in 86 patients withAML and 90 normal subjects by polymerase chain reaction-single strandconformation polymorphism (PCR-SSCP) and DNA sequencing. The mRNAexpression of PU.1 gene was detected in 58 patients with AML and 18 controlsby semi-quantitative reverse transcriptase-polymerase chain reaction(RT-PCR),using β-actin as internal reference. Results (1) We could not find mutation of PU.1 in AML but found a newSNP site in the forth intron of PU.1; There were no difference between AMLgroup and normal group for distribution frequencies of allele and genotype inthe SNP(P>0.05). (2) The mRNA expression of PU.1 in AML patients wassignificantly lower than that in control group(P<0.001). The expression of PU.1in AML is evidently correlated with the expression of HLA-DR(P<0.05) but notwith the expression of CD34,CD33,CD11b,CD19,CD79a,MPO. Conclusions (1) Our results indicate that PU.1 mutation is not a commonmechanism in the pathogenesis of AML. (2) We found a new SNP site which hasbeen accepted by NCBI SNP database. (3) The lower expression of PU.1 mRNAmay be one of the mechanisms of AML.