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 PCR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 1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 Objective: To investigate the chromosomal abnormalities and the exon 1 methylation of p16 gene in patients with myelodysplastic syndrome (MDS). Methods: The chromosomal abnormalities of 15 patients with MDS were examined by bone marrow cells immediate hypoosmotic method and G-banding technique. The methylation of exon 1 of p16 gene in MDS patients was detected by restriction endonuclease digestion and PCR. Results: Four cases of chromosomal abnormalities were found in 13 cases of MDS. Two cases were chromosomal abnormalities and two cases were chromosomal abnormalities. One case of p16 gene exon 1 methylation was found in 15 cases of MDS. Conclusion: A high proportion of chromosomal abnormalities in MDS patients and chromosomal abnormalities are mainly monosomy. Exon 1 methylation of p16 gene may not be involved in the pathogenesis of MDS, but may be involved in the transformation of MDS to acute leukemia