以VNTR多态性分析检测人类白血病RB基因的杂合子性缺失  

DETECTION OF LOSS OF HETEROZYGOSITY OF RB GENE BY VNTR POLYMORPHISM ANALYSIS IN HUMAN LEUKEMIA

作　　者：王嵘[1] 郁知非[1] 李岱宗[2] 顾建人[2] 汪明春[1] 曹宇清[2] 李菊湘[1] 

机构地区：[1]暨南大学医学院,广州510630 [2]上海市肿瘤研究所

出　　处：《中国实验血液学杂志》1995年第2期165-169,共5页Journal of Experimental Hematology

基　　金：广东省科委科学基金

摘　　要：对30个正常个体进行RB1.20 PCR-VNTR分析,其多态性为86.7％。28例白血病的VNTR多态性为64.3％,显著低于正常对照(P<0.05)。以各种不同类型白血病分组分析,发现其中急淋组仅为37.5％,显著低于正常(P<0.05),其它各型白血病与正常比较无显著差异(P>0.05)。进一步对24例急性白血病病例作发作期和完全缓解期的配对VNTR分析,发现其中1例急淋在完全缓解期是多态性,但发作期呈均一性。提示一些急淋病例有RB基因杂合子性缺失。RB基因功能失活在急淋的发病中可能也起一定的作用。Using the variable number tandem repeat (VNTR) polymorphism analysis by PCR, we found RB1.20 VNTR heterozygosity being 64.3% in 28 cases of patients with different types of acute and chronic leukemias; it was significantly lower than that in 30 healthy individuals (26 / 30 or 86.7%, p<0.05)serving as normal control. When the results were analysed in reference to the types of leukemia, it was found that the low incidence of VNTR heterozygosities was significant in comparison with that of the normal individuals only in the group of ALL(3 / 8 or 37.5%, p<0.05), but not in the groups of ANLL(5/6 or 83.3%), CML(6/8 or 75.0%), CLL(3/4 or 75.0%) and hairy cell leukemia (1 / 2). VNTR analysis of the RBI.20 in 24 patients with acute leukemia was made during both the phases of complete remission and relapse. In one patient with ALL, heterozygosity of the RBI.20 VNTR was detected during complete remission but disappeared and changed to homozygosity during relapse. This provides evidence that the loss of heterozygosity of the RB gene is probably related to the leukemogenesis of ALL.

关 键 词：白血病 RB基因 杂合子性缺失 VNTR 多态性分析 

分 类 号：R346[医药卫生—基础医学]