以PCR－SSCP分析和核苷酸序列直接测定技术检测人类白血病p53基因点突变  

DETECTION OF POINT MUTATION OF p53 GENE INHUMAN LEUKEMIA BY PCR-SSCP ANALYSIS ANDDIRECT NUCLEOTIDE SEQUENCING

作　　者：王嵘[1] 郁知非[1] 顾建人[1] 李岱宗[1] 曹宇清[1] 汪明春[1] 李菊湘[1] 

机构地区：[1]暨南大学医学院,上海市肿瘤研究所

出　　处：《中华血液学杂志》1995年第11期579-581,共3页Chinese Journal of Hematology

基　　金：广东省科委科学基金

摘　　要：以多聚酶链反应－单链构象多态性（ＰＣＲ－ＳＳＣＰ）分析（技术研究）３６例不同类型的白血病ｐ５３抗癌基因点突变，结果在１４例淋巴细胞白血病中发现３例有ｐ５３基因片段的泳动变位。进一步对其中的１例急性淋巴细胞白血病进行核苷酸序列直接测定，显示在第７外显子的２５７位编码子核昔酸由ＣＴＧ突变为ＣＡＧ、氨基酸由天冬氨酸突变为缀氨酸。２２例髓系白血病未发现有ｐ５３基因的点突变。结果提示ｐ５３抗癌基因点突变导致功能失活在淋巴细胞白血病的发病中可能起一定的作用。sing the polymerase chain reaction, single-strand conformation polymorphism (PCR-SSCP ) analy-sis, we detected point mutations of P53 gene in 3 of 14patients with lymphocytic leukemia (2 ALL and 1CLL) . but in none of 22 natients with either ANLL orCML. Direct nucleotide sequencing in one patient withALI- showed transversion of CTG to CAG in codon257 of exon 7, resulting in the substitution of valinefor aspartic acid. This finding has not been reportedpreviously. The results presented further evidence thatabnormality of P53 gene might be involved in thepathogenesis of lymphocytic leukemia in sorne cases.

关 键 词：多聚酶链反应 核苷酸 序列 白血病 P53基因 

分 类 号：R733.704[医药卫生—肿瘤]