以VNTR作为多态标记检测人类白血病p53基因杂合子性缺失

用ＰＣＲ－ＶＮＴＲ多态分析，以白血病缓解期患者的骨髓有核细胞作为胚系对照，对２７例急性白血病患者进行ｐ５３基因杂合子性缺失进行检测，结果发现在２７例中１３例呈异质性，其胚系的多态性率为４８．２％（３／２７）。对１３例胚系的ＶＮＴＲ呈多态性的白血病患者（ＡＬＬ１０例，ＡＭＬ３例），进一步进行白血病细胞与胚系的ＰＣＲ－ＶＮＴＲ配对分析，结果发现１例ＡＬＬ患者白血病细胞的ＶＮＴＲ异质性消失，而呈均一性。提示此例ＡＬＬ患者ｐ５３基因缺失一条等位基因，呈ＬＯＨ。结果提示ｐ５３基因功能失活在急性淋巴细胞白血病的发病中可能起一定的作用。

DETECTION OF LOSS OF HETEROZYGOSITY OF p53 GENE BY VNTR POLYMORPHISM ANALYSIS IN HUMAN LEUKEMIA

Using the variable number repeat (VNTR) polymorphism analysis by PCR in intron 1 of the p53 gene, in bone marrow nucleate cell from 27 patients with acute leukemia during complete remission serving as germline control. We found NVTR heterozygosity being 13/27(48.2%). In 13 cases with germline VNTR heterozygosity, including 10 ALL and 3 AML, PCR VNTR was analysed from leukemic cell. In one patient with ALL, VNTR is heterozygositic in germline control but changed to homozygosity in leukemic cell. This suggested one allel of p53 gene deleted (loss of heterozygosity) in leukemic cell. This result provides evidence that the inactivation of the p53 gene is probably related to the leukemogenesis of ALL.