白血病Ph染色体与p53基因的关系及其临床应用

Study of relation between Ph chromosome and p53 gene in leukemia and its clinic application.

目的 : 建立Ph染色体和 p5 3基因突变的检测方法 ,并在白血病中临床应用。方法 : 本研究通过对慢性粒细胞白血病 (CML)患者Ph染色体及p5 3基因突变的检测 ,在细胞遗传学水平和基因分子水平动态检测CML的进展及其临床治疗效果。结果 : 我们共分析各医院选送有怀疑的慢粒标本 35例 ,其中Ph染色体阴性者 14例 ,占总例数的 40 % ;Ph染色体阳性者 2 1例 ,占总例数的 6 0 % ,均为典型的Ph易位即t(9;2 2 ) (q34;q11)。用PCR—SSCP法检测了p5 3外显子的突变 ,结果发现其中有 5例Ph阴性病人 ,未检出p5 3基因突变情况 ,在 10例Ph阳性病人中 ,有 8例呈现 p5 3阳性突变 ,Ph阳性病人中有 80 %呈现 p5 3基因突变。结论 : Ph染色体与p5 3基因有一定的相关性 ,Ph染色体的变异及 p5 3基因突变可以作为疾病进展的有用指标 ,对监测CML进展及治疗、预后具有重要价值。

To establish the method which examined the Ph chromosome and p53 gene,we can use the method in checking leukemia in clinic.Methods:By detecting Ph chromosome and p53 gene mutations about sufferers of chronic myelogenous leukemia (CML),we examined dynamically the evolvement of CML,and its clinic effect of therapy in cytogenetics and gene molecular levels.Results:We analyzed 35 cases doubtful CML samples which were chosen by the hospitals in Ningbo,found that 14 cases were negative of Ph chromosome(40% in all cases) and 21 cases were the positive (60% in all cases),all of the positive cases were typical Ph transposition [namely t(9;22)(q34;q11)].Using PCR-SSCP technique,we examined the mutations of p53 exon,the result was that 5 cases were the negative patients of Ph chromosome (no p53 mutations),8 in 10 cases presented the positive p53 gene mutations,there were 80% p53 gene mutations in the positive patients of Ph chromosome.Conclusions: Ph chromosome was connected with p53 gene mutations, both of the Ph chromosome variations and p53 gene mutations can be used for available indexes of disease evolution,it is very important to measure evolution,treat and prognosis about CML.