白血病p53基因测序临床研究

A CLINCAL STUDY OF HUMAN p53 GENE SEQUENCING IN LEUKEMIA

目的 :通过 p5 3基因测序 ,了解其与白血病的发展、治疗及转归的关系。方法 :用聚合酶链式反应和双链直接测序方法 ,分析 p5 3基因外显子 5、6、7、8,共检测急性白血病 32例 ,慢性白血病 31例。结果 :急性白血病32例中 5例 (15 .6 2 % ) p5 3基因突变 ,突变点分别在密码子 2 2 6 GGC→ GTC,2 37ATG→ ATT,2 47AAC→ AGC,2 85 GAG→ GGG,2 5 9GAC→ GTC等五个点。慢性白血病 31例中 3例 (9.7% ) p5 3基因突变 ,且 3例突变均为慢粒急变期 ,突变点分别在密码子 2 2 6 GGC→ GTC,2 47AAC→ AGC,2 5 8GAG→ GGG等三个点。 5例急性白血病 p5 3基因突变均对化疗引物不敏感 ,治疗效果差 (3例部分缓解 ,2例未缓解 )。 3例慢粒急变 p5 3基因突变疗效甚差 ,预后也差 ,均在住院二月内死亡。结论 :p5 3基因测序对指导临床治疗及判断预后均有一定价值 ,对研究白血病的发病亦具有深远的意义。

Objective:To Study the relation of p53 mutation and leukocythemia.Methods:Using polymerase chain reaction (PCR) and double strand DNA direct sequencing methods to analyse the sequence of p53 gene exons 5 8.32 cases of acute leukemia,and 31 cases of chronic leukemia were tested. Results:1) 5/32 (15.62%) cases of acute leudenia were p53 mutation,it was codon 226 GGC→GTC,237 ATG→ATT,247 AAC→AGC,259 GAC→GTC,285 GAG→GGG mutation,respectively.2) 3/31 (9.7%) cases of chronic leukemia were p53 mutation,it was zzb GGC→GTC,247 AAC→AGC,285 GAG→GGG respectively.3) ALL 8 cases,who had p53 gene mutation showed prognosis mala,5 cases of acute leukemia could not remission thoroughly by chemotherapy,3 cases of chronic leukemia were acute variation.Conclusion:p53 gene sequencing method had a important role in clinical treatment and prognosic judgment of leukocythemia.