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各种肿瘤尤其是恶性神经胶质瘤中约30％染色体9短臂出现频发的异常。9P21上频发缺失的区域含有编码p16蛋白的CDKN2基因。这种蛋白通过抑制循环素依赖酶4的催化活性而控制G_1期细胞增殖。 作者使用定量PCR对32例恶性神经胶质瘤的CDKN2基因的外显子2的结构进行了检测。首先扩增了含有全部外显子的肿瘤组和对照组的三种重叠片段(p16-2A、-2B、-2C),一种定位于染色体1的管家基因CPTI的一部分也被扩增。PCR产物的光密度分析检测出11例肿瘤的p16/CPT之比为1(或大于1),SD比对照组低,且CDKN2基因显示21％的剩余扩增。第二系列的8例肿瘤的光密度比率化对照组低,平均为42.3％。随后,通过SSCP检测了同
Approximately 30% of chromosome 9 short arms of various tumors, especially malignant gliomas, have frequent abnormalities. The region in which 9P21 is frequently deleted contains the CDKN2 gene encoding the p16 protein. This protein controls cell proliferation in the Gl phase by inhibiting the catalytic activity of cyclin-dependent enzyme 4 . The authors used quantitative PCR to detect the structure of exon 2 of the CDKN2 gene in 32 cases of malignant gliomas. First, three overlapping fragments (p16-2A, -2B, and -2C) of the tumor group containing the entire exon and the control group were amplified, and a portion of a housekeeping gene CPTI located on chromosome 1 was also amplified. Densitometric analysis of the PCR product detected a p16/CPT ratio of 1 (or greater than 1) in 11 tumors, SD was lower than the control, and the CDKN2 gene showed 21% of the remaining amplification. The optical density of the second series of 8 tumors was lower in the control group, with an average of 42.3%. Subsequently, SSCP was used to detect the same