摘要
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。
Hybridization of patient DNA with synthetic oligonucleotide probes(one wild type,two mutation type)amplified with PCR by means of amplimers was carried out to detect Ki- raspoint mutation at condon 12.Bone marrow samples from 42 patients(6 MDS,9 ANLL,7ANLL-CR, 6 CML,14 other hematological diseases)were studied.Among six patients withMDS, only 1 case (RAEB- T)exhibited Ki- ras mutation with GGT to AGT transition and devel-oped to ANLL- M_5 three month later.The incidenee of Ki-ras gene mutation in MDS was about16%(1/6).Although only a few cases of MDS were studied, it may be suggested that theactivation of the Ki- ras gene plays an important role in the development of leukemia in MDS. Three of nine patients with ANLL showed point mutation of Ki- ras gene. One of these three pa- tients diagnosed as M_4b had GGT to AGT and GGT to TGT transition. The seven ANLL pa- tients with clinical remission,did not bave Ki-ras mutation at codon 12.Mutation of Ki- ras genewas also found in nonmalignant hematological disease(two patients with microcytichypochromatic anemia and one patient with hypormegakaryocytic thrombocytopenia)which ex-hibited GGT to AGT transition.
出处
《军事医学科学院院刊》
CSCD
北大核心
1995年第2期86-89,共4页
Bulletin of the Academy of Military Medical Sciences
关键词
骨髓增生异常
综合征
12密码子
点突变
myelodysplastic syndrome
acute nonlymphoblastic leukemia
Ki- ras oncogene
12 codon
point mutation
