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应用ＰＣＲ技术和寡核苷酸探针杂交检测４２例患者骨髓Ｋｉ－ｒａｓ癌基因第１２位密码子点突变。结果表明，在骨髓增生异常综合征（ＭＤＳ）患者中１例ＭＤＳ（ＲＡＥＢ－Ｔ）患者（１／６）发生了ＧＧＴ→ＡＧＴ的点突变，此患者诊断后３个月转为急性白血病。在急非淋白血病（ＡＮＬＬ）患者中（３／９）检测到上述同样位点点突变，其中１例发生了ＧＧＴ→ＡＧＴ和ＧＧＴ→ＴＧＴ的双突变；７例ＡＮＬＬ缓解期患者未检测到Ｋｉ－ｒａｓ的突变；２例小细胞低血色素贫血和１例巨核细胞增生性血小板降低患者亦检测到突变。对实验结果特别是Ｋｉ－ｒａｓ癌基因的点突变在ＭＤＳ转急性白血病中的意义进行了讨论。
42 patients with Ki-ras oncogene 12 codon point mutations were detected by PCR and oligonucleotide probe hybridization. The results showed that point mutation of GGT → AGT occurred in 1 patient with MDS (RAEB-T) (1/6), and the patient turned acute leukemia 3 months after diagnosis. In acute leukemia (ANLL) patients (3/9), the same site-directed mutagenesis was detected, including 1 case of double mutations of GGT → AGT and GGT → TGT; 7 cases of patients with ANLL did not detect Ki- Mutations in ras were also detected in 2 patients with hypoaermia and 1 in patients with megakaryocytic thrombocytopenia. The significance of the experimental results, especially the point mutation of Ki-ras oncogene in acute leukemia with MDS, is discussed.