骨髓增生异常综合征的染色体异常和p16基因外显子1甲基化研究

目的：研究骨髓增生异常综合征(MDS)患者染色体异常和p16基因外显子1甲基化情况。方法：采用骨髓细胞即刻低渗法和G显带技术检查15例MDS患者染色体异常情况，应用限制性内切酶酶切法和FOR技术检测MDS患者p16基因外显子1甲基化情况。结果：13例MDS患者4例染色体异常，其中2例为染色体数目异常，2例为染色体结构异常；15例MDS患者中．发现有1例p16基因外显子l发生甲基化。结论：MDS患者有较高比例的染色体异常，染色体异常以单体性为主；p16基因外显子1甲基化可能不参与MDS发病，但有可能参与MDS向急性白血病的转化。

Study of chromosome abnormalities and p16 gene methylation in the patients with MDS

Objective: The chromosome abnormalities and whether or not existing the methylation of p16 gene in the bone marrow cell of patients with MDS. Methods: The method of immediate infusion combined with the method of bone marrow cell instance were used to research the chromosome abnormalities and the p16 gene methylation patients was studied by PCR. Results: Four chromosome abnormalities among thirteen patients were found (30.7%). Three patients with chromosome number abnormalities and one with structure abnormalities among the 13 patients were found. Only one case was the methylation of p16 gene among the 15 patients (6.7%). Conclusion: High ratio of patients with the chromosome abnormalities was found among MDS patients. The p16 gene methylation involving the p16 gene may not be involved the cause of the MDS. Whether or not the methylation of p16 gene makes the MDS transformation to the acute leukemia remains further research.