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分析急性髓细胞白血病（ＡＭＬ）中转录因子ＧＡＴＡ－２基因的表达和突变情况。方法：应用反转录－多聚酶链反应（ＲＴ－ＰＣＲ）检测８５例ＡＭＬ的ＧＡＴＡ－２基因表达情况。阳性标本进一步进行单链构象多态性（ＳＳＣＰ）及直接进行放射性和自动序列分析来检测ＧＡＴＡ－２基因的突变情况。２５例正常人的外周血或骨髓作为对照。结果：８５例ＡＭＬ中７６例表达了ＧＡＴＡ－２基因。各ＡＭＬ亚型均见ＧＡＴＡ－２表达者。在８５例ＡＭＬ发现２例出现至今尚未报道的ＧＡＴＡ－２基因的突变。在一例ＡＭＬ－Ｍ２型病人发现ＧＡＴＡ－２ｃＤＮＡ的第１０８５位核苷酸的点突变，从胞嘧啶突变为鸟嘌呤，故导致在ＧＴＡＴＡ－２的第１锌指结构区的一个氨基酸由脯氨酸改变为丙氨酸。而另一例ＡＭＬ－Ｍ１／２病人则在ＧＡＴＡ－２的第２锌指结构区出现一１８个碱基的插入突变。该插入片段为位于ＧＡＴＡ－２ｃＤＮＡ的１２７１～１２８８ｂｐ片段的重复序列，故导致ＧＡＴＡ－２第２锌指的羧基端出现第３６０～３６５位氨基酸的重复片段，其中包括一个半胱氨酸的插入，由于出现第５个与锌指结合的半胱氨酸，可能引起锌离子结合的改变。结论：本文首次报道了人类ＧＡＴＡ－２基因的突变情况。该突变导致相?
To analyze the expression and mutation of transcription factor GATA-2 gene in acute myeloid leukemia (AML). Methods: The GATA-2 gene expression in 85 cases of AML was detected by reverse transcription-polymerase chain reaction (RT-PCR). Positive samples were further subjected to single-strand conformation polymorphism (SSCP) and direct radioactivity and automated sequence analysis were performed to detect the GATA-2 gene mutation. Peripheral blood or bone marrow was used as a control in 25 normal individuals. RESULTS: Among the 85 cases of AML, 76 cases expressed GATA-2 gene. Each AML subtype has GATA-2 expression. Two cases of 85 cases of AML were found to have not yet reported GATA-2 gene mutations. In a patient with AML-M2, a point mutation at nucleotide position 1085 of the GATA-2 cDNA was found to mutate from cytosine to guanine, resulting in an amino acid from valine in the first zinc finger domain of GTATA-2. Change to alanine. Another patient with AML-M1/2 showed an 18-base insertion mutation in the second zinc finger domain of GATA-2. The insert is a repeat sequence of the 1271 to 1288 bp fragment of the GATA-2 cDNA, resulting in the presence of amino acid 360-365 repeats at the carboxy terminus of the second zinc finger of GATA-2, including the insertion of a cysteine. Due to the occurrence of the fifth cysteine bound to the zinc finger, zinc ion binding may be changed. Conclusion: This article reports for the first time the mutation of human GATA-2 gene. This mutation leads to phase?