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探讨P16基因突变在宫颈癌发生中的作用及基因突变的机制。利用点突变检测仪、水平和垂直板电泳对P16基因的外显子1、外显子2的PCR扩增产物作缺失和点突变分析。结果在29例临床宫颈癌标本中有8例发生缺失突变,4例发生点突变,突变率约41%。其中1例外显子1为不完全缺失突变即有低于343bp的扩增带。P16基因的发生突变原因是因为其含有“CG”DNA重复顺序,易发生DNA重组及易位和重排。
To investigate the role of P16 gene mutation in cervical carcinogenesis and the mechanism of gene mutation. Point mutation detector, horizontal and vertical plate electrophoresis of P16 gene exon 1, exon 2 PCR amplification products for deletion and point mutation analysis. Results In 29 cases of cervical cancer specimens, 8 cases of deletion mutation occurred, 4 cases of point mutation, the mutation rate of about 41%. One case of exon 1 is incomplete deletion mutation that is less than 343bp amplification band. The reason for the mutation of P16 gene is that it contains “CG” DNA repetitive sequence, and DNA recombination and translocation and rearrangement are easy to occur.