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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 2基因的插入突变
RT-PCR, single-strand conformation polymorphism (SSCP) and nucleotide sequence analysis were used to detect the expression and mutation of GATA 2 gene in peripheral blood mononuclear cells in 85 patients with acute nonlymphocytic leukemia (ANLL). The results showed that most of the ANLLs expressed the GATA 2 gene (89.4 %) and found that the PCR product of 1 patient with M1 was larger than the normal product. Sequence analysis showed 18 nucleotides in the second zinc finger region of GATA 2 gene. The mutation was inserted so that the second zinc finger of GATA factor 2 was increased by 6 amino acids and contained one cysteine capable of binding to zinc ions. The insertion mutation may cause changes in the function of GATA 2, which is the first time that an insertion mutation of GATA 2 gene has been found in ANLL.