急性淋巴细胞白血病p16基因纯合性缺失、点突变及启动子甲基化变异  

Deletion, point mutation and promoter methylation of p16 gene in acute lymphocytic leukemia

作　　者：刘晓颖[1] 汪惠园[1] 周青[1] 袁凌云[1] 汪渊[1] 

机构地区：[1]安徽医科大学生物化学教研室和分子生物学实验室

出　　处：《安徽医科大学学报》2005年第2期110-113,共4页Acta Universitatis Medicinalis Anhui

基　　金：安徽省自然科学基金 (编号: 99044312);安徽省教育厅自然科学基金(编号:JL97 -077 );安徽医科大学校科研基金(编号: 522095;9907;9904)资助项目

摘　　要：目的　探讨急性淋巴细胞白血病(ALL)患者p16基因的失活机制。方法　从29例患者外周血提取白细胞基因组DNA,采用PCR、PCR SSCP、MSP分析方法,对p16基因第二外显子的纯合性缺失、点突变及启动子区CpG岛的甲基化变异进行分析。结果　p16基因第二外显子的缺失率为27. 6% (8 /29),未见其点突变;p16基因启动子区CpG岛的甲基化率为13. 8% (4 /29)。结论　p16基因的失活和ALL的发生发展有一定的关系。Objective To investigate the inactivation mechanism of tumor suppressor gene p16 in 29 Chinese acute lymphocytic leukemia(ALL) patients. Methods DNA was extracted from peripheral leukocytes of 29 ALL patients using phenol/chloroform method. The deletions and point mutations of p16 exon2 and methylation variations in promoter CpG islands of p16 by were analysed by PCR(polymerase chain reaction), PCR-SSCP(PCR-single strand conformational polymorphism) and MSP(methylation-specific PCR) methods. Results In these ALL samples, the homozygous deletion rate of p16 exon2 was 27.6%(8/29), no point mutation of p16 exon2 was found; the methylation rate of the promoter CpG islands of p16 gene was 13.8(4/29). Conclusion Inactivation of p16 gene is related to the progression of ALL.

关 键 词：白血病 淋巴细胞 急性 基因 P16 基因缺失 外显子 

分 类 号：R733.71[医药卫生—肿瘤] R394.2[医药卫生—临床医学]