急性非淋巴细胞白血病中转录因子GATA-2基因插入突变

The Insertional Mutation of Transcription Factor GATA-2 Gene in Acute Non-Lymphocytic Leukemia

采用RT PCR ,单链构象多态性 (SSCP)和核苷序列分析检测 85例急性非淋巴细胞白血病 (ANLL)病人外周血单个核细胞中GATA 2基因的表达和突变情况。结果发现绝大多数ANLL都表达了GATA 2基因 (89.4 % ) ,并发现 1例M1病人的PCR产物较正常产物大 ,序列分析显示在GATA 2基因第二锌指区出现 18个核苷酸的插入突变 ,使其GATA 2因子的第二锌指增加 6个氨基酸 ,其中含有 1个能与锌离子结合的半胱氨酸。该插入突变可能引起GATA 2的功能改变 ,该结果为首次发现ANLL中的GATA

To investigate the expression and mutation of transcription factor GATA-2 gene in acute non-lymphocytic leukemia(ANLL), the GATA-2 gene were amplified in peripheral blood mononuclear cells from 85 cases with ANLL using RT-PCR, and the PCR products were further analyzed by single strand conformation polymorphism (SSCP) and sequencing. The results showed that GATA-2 gene was expressed in the most cases with ANLL (89.4%). One larger band was observed by RT-PCR in a case with M 1 subtype. Nucleotide sequence analysis revealed a insertion of 18 nucleotides at position 1 288 bp of the GATA-2 gene cDNA, thereby leading to 6 additional amino acids in second zinc finger complex of GATA-2, and it includes a cysteine which can bind to zinc ion. The insertional mutation may change the function of GATA-2 transcription factor. To our knowledge this is the first description of insertional mutation in the GATA-2 gene.