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为了研究p16基因甲基化和缺失与急性白血病发病的关系,探讨其在成人急性白血病发生发展中的生物学意义,应用巢式甲基化特异性聚合酶链反应(nested methylation specific polymerase chain reaction,n-MSP)分析了82例各种亚型的急性白血病患者在初诊或复发不同阶段p16基因的甲基化和缺失状态,并且在基因组硫化修饰PCR后克隆测序验证结果的准确性。结果表明:82例急性白血病(AL)患者p16基因甲基化的出现率为39.0%,其中急性髓系白血病(AML)患者为41.4%,24例急性淋巴细胞白血病(ALL)患者为33.3%;初治AL患者为36.6%,而复发患者则为54.5%。82例AL患者中有6例p16基因缺失,缺失率为7.3%,在AML、ALL患者中分别为1.7%和20.8%。16例健康自愿者或非恶性血液病患者p16基因则未发生甲基化或缺失。结论:在成人急性白血病的发生发展中,p16基因甲基化比p16基因纯合缺失更具有意义;p16基因表达异常与成人急性白血病的发生发展密切相关。
In order to study the relationship between methylation and deletion of p16 gene and the pathogenesis of acute leukemia and its biological significance in the development of adult acute leukemia, nested methylation specific polymerase chain reaction n-MSP) were used to analyze the methylation status and deletion status of p16 gene in 82 different subtypes of acute leukemia patients at different stages of the new diagnosis or relapse, and the accuracy of the sequencing results was verified by genomic vulcanization-modified PCR. The results showed that the incidence of methylation of p16 gene in 82 patients with acute leukemia (AL) was 39.0%, of which 41.4% were in acute myeloid leukemia (AML) and 33.3% in 24 patients with acute lymphoblastic leukemia (ALL). The initial treatment of AL patients was 36.6%, while the recurrence was 54.5%. Sixty of 82 AL patients had a deletion of the p16 gene, with a deletion rate of 7.3% and 1.7% and 20.8% in AML and ALL patients, respectively. 16 cases of healthy volunteers or non-hematological malignancy p16 gene was not methylated or deleted. Conclusion: The methylation of p16 gene is more meaningful than the homozygous deletion of p16 gene in the development of adult acute leukemia. The abnormal expression of p16 gene is closely related to the occurrence and development of adult acute leukemia.