白血病中肿瘤抑制基因p16的缺失和突变研究

目的探讨肿瘤抑制基因ｐ１６在几种类型白血病中的改变及其频率。方法对７７例原发性白血病及非霍奇金淋巴瘤标本分别采用Ｓｏｕｔｈｅｒｎ印迹杂交，ＰＣＲ┐ＳＳＣＰ的方法检测缺失及点突变。结果Ｓｏｕｔｈｅｒｎｂｌｏｔ杂交发现ｐ１６基因异常共１１例，其中纯合缺失７例，异常重组片段４例，ＳＳ┐ＣＰ发现ｐ１６第三外显子异常泳动带６例，是否为突变有待测序证实。结论ｐ１６基因改变主要集中在急性淋巴细胞性白血病，占４７．７％（９／１９），提示这一肿瘤抑制基因在淋巴细胞发生恶性变的机制中起一定作用

STUDY OF DELETION AND MUTATION OF TUMOR SUPPRESSOR GENE p16 IN LEUKEMIA

Objective:The purpose is to access the incidence of p16 gene alteration in several types of leukemias.Methods:Southern blot hybridization and PCR SSCP were used to detect deletion and mutation of p16 gene in 77 cases of hematologic malignancies respectively.Results:11 cases with p16 alteration were detected in Southern blot hybridization and 7 of them were homozygous deletion and 4 had abnormal recombinated fragement.Abnormal band migrations were detected in exon 3 and whether they are mutations or not require to be confirmed by direct sequencing analysis.Conclusion:The p16 alteration is a frequent event in leukemia and it is restricted to lymphoid neoplasm and especially to ALL. This result indicates that this tumor suppressor gene may play an important role in tumorgenesis.