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分析小儿急性白血病 P1 6基因的突变及其在疾病发生的作用。利用 PCR扩增 P1 6基因的外显子 1、外显子 2 ,并进行缺失突变分析 ,利用均一变性凝胶电泳( CDGE)对外显子 2进行点突变分析。结果显示 :小儿急性白血病缺失突变率异常高 ,5 7例患者中有 1 8例发生缺失突变 ,只有 6例发生点突变 ,总突变率为 31 .6 %。ALL患者 P1 6基因的总突变率明显高于 AML患者 ,为 6 4 .7% ,而 AML患者 P1 6基因的总突变率只有 8.7%。我们认为 :P1 6基因的突变在小儿急性白血病发生中起重要作用。P1 6基因含有“CG”DNA重复顺序 ,是小儿急性白血病 P1 6基因缺失突变率高于点突变率的原因。
To analyze the mutation of P1 6 gene in children with acute leukemia and its role in the disease. Exon 1 and exon 2 of P1 6 gene were amplified by PCR and analyzed by deletion mutation analysis. Point mutation analysis of exon 2 was performed by homogeneous denaturing gel electrophoresis (CDGE). The results showed that the deletion mutation rate of acute leukemia in children was abnormally high. Among the 57 cases, 18 cases had deletion mutation and only 6 cases had point mutation with a total mutation rate of 31.6%. The overall mutation rate of P1 6 gene in patients with ALL was significantly higher than that of AML patients (64.7%), while the overall mutation rate of P1 6 gene in AML patients was only 8.7%. We think: P1 6 gene mutation plays an important role in the development of pediatric acute leukemia. P1 6 gene contains “CG” DNA repeat sequence, which is the reason that the mutation rate of P1 6 gene in children with acute leukemia is higher than the point mutation rate.