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了解转录因子 ＧＡＴＡ－ ２基因在 ＡＮＬＬ中的表达和突变情况。方法：采用 ＲＴ－ＰＣＲ检测８５例ＡＮＬＬ病人外周血单个核细胞中ＧＡＴＡ－２基因的表达情况，ＰＣＲ产物进一步经单链构象多态性（ＳＳＣＰ）分析以了解基因突变情况。结果：绝大多数ＡＮＬＬ都表达了ＧＡＴＡ－２基因（８９．４％），ＳＳＣＰ分析发现一例Ｍ２型的ＰＣＲ产物出现异常迁移带，核苷序列分析显示在ＧＡＴＡ－２基因第８９２位的核苷酸出现点突变，即第２９８位密码子由ＣＣＴ改变为ＧＣＴ，引起所编码的氨基酸由脯氨酸改变为丙氨酸。结论：提示ＧＡＴＡ－２可能在ＡＮＬＬ细胞的增殖和分化过程中起一定的作用。此结果为首次发现ＡＮＬＬ中的ＧＡＴＡ－２基因点突变。
To understand the expression and mutation of GATA-2 gene in ANLL. Methods: The expression of GATA-2 gene in peripheral blood mononuclear cells of 85 patients with ANLL was detected by RT-PCR. The PCR products were further analyzed by single strand conformation polymorphism (SSCP) to understand the gene mutation. Results: The majority of ANLL expressed GATA-2 gene (89.4%). SSCP analysis showed that one case of M2 type PCR product showed abnormal migration band. Nucleotide sequence analysis showed that the GATA-2 gene nucleotides at position 892 A point mutation in the acid, ie, codon 298 changed from CCT to GCT, caused the encoded amino acid from proline to alanine. Conclusion: It is suggested that GATA-2 may play an important role in the proliferation and differentiation of ANLL cells. This result was the first to discover point mutations in the GATA-2 gene in ANLL.