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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。
OBJECTIVE: To establish a method for the detection of mutations in the Ph chromosome and p5 3 gene and its clinical application in leukemia. Methods: In this study, the detection of Ph chromosome and p5 3 gene mutation in patients with chronic myeloid leukemia (CML) was used to dynamically detect the progress of CML and its clinical effect at cytogenetic and molecular level. Results: We analyzed a total of 35 specimens of suspected chronic myeloid leukemia patients in hospitals, of which Ph chromosome negative in 14 cases, accounting for 40% of the total cases; Ph chromosome positive in 21 cases, accounting for 60% of the total cases, All are typical Ph translocations ie t (9; 2 2) (q34; q11). The mutation of p5 3 exon was detected by PCR-SSCP and found that 5 cases of Ph-negative patients did not detect the mutation of p5 3 gene. In 10 cases of Ph-positive patients, 8 cases showed p5 3 positive mutation , 80% of Ph-positive patients showed p5 3 gene mutation. Conclusion: There is a correlation between Ph chromosome and p5 3 gene. Ph chromosome mutation and p5 3 gene mutation can be used as useful indicators of disease progression. It is of great value in monitoring the progress of CML and treating and prognosis.