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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。
Using PCR-VNTR polymorphism analysis, bone marrow nucleated cells in patients with remission of leukemia were used as germline controls. 27 cases of acute leukemia patients were tested for p53 heterozygosity deletion. The results showed that 13 cases were heterogenous in 27 cases. The sexual polymorphism rate of the germ line was 48.2% (3/27). For the leukemia patients with polymorphisms in VNTR of 13 germline lines (10 ALL and 3 AML), PCR-VNTR pairing analysis of leukemia cells and germline was performed. The results showed that the VNTR heterogeneity of leukemia cells in one ALL patient disappeared. , and was homogeneous. This case of ALL patients lacked one allele of p53 gene and showed LOH. The results suggest that the inactivation of p53 gene may play a role in the pathogenesis of acute lymphoblastic leukemia.