论文部分内容阅读
为探讨p1 6基因缺失及甲基化在小儿急性淋巴细胞白血病 (ALL)发病中的作用 ,认识p1 6蛋白失活的分子机制。应用差异PCR技术检测 42例初治、1 7例缓解期小儿ALLp1 6基因的纯合缺失及甲基化。结果 42例ALL中p1 6基因纯合缺失率占38.1 % ,T系ALL占 80 % ,显著高于B系ALL2 2 .5 % ,P <0 0 1。 1 7例缓解期ALL均无基因缺失。 9例p1 6基因完整 ,但无蛋白表达的ALL患者 ,无一例发生基因外显子 1的甲基化。结果表明 ,p1 6基因纯合缺失是小儿ALL ,尤其T系ALL最常见的基因缺陷 ,是p1 6蛋白失活的主要分子机制。基因甲基化与p1 6蛋白失活可能无关。
To investigate the role of p1 6 gene deletion and methylation in the pathogenesis of pediatric acute lymphoblastic leukemia (ALL) and to understand the molecular mechanism of inactivation of p1 6 protein. Differential PCR was used to detect homozygous deletion and methylation of ALLp16 gene in 42 naive and 17 remission children. Results The percentage of homozygous deletion of p1 6 gene in 42 ALL cases was 38.1%, T-ALL was 80%, which was significantly higher than that in B-ALL2 2.5%, P <0.01. Seventeen patients with remission ALL had no gene deletion. No methylation of exon 1 was found in 9 cases of ALL patients with p1 6 gene integrity but no protein expression. The results showed that the homozygous deletion of p1 6 gene is the most common gene defect in pediatric ALL, especially T-ALL, which is the main molecular mechanism of p16 protein inactivation. Gene methylation may not be related to p16 protein inactivation.