【摘要】 目的了解在人脑星形细胞瘤中PTEN/MMAC基因第五、第八外显子的突变情况及其在肿瘤恶性进展中的作用。方法应用聚合酶链反应(PCR),银染PCR-单链构象多态性(SSCP)技术对52例人脑星形细胞瘤,7例正常脑组织和3例外周血标本进行检测。结果52例病人中8例发生PTEN/MMAC第五、第八外显子点突变,突变率为15.4%(8/52),其中20例病理Ⅰ～Ⅱ级的星形细胞瘤无突变,32例Ⅲ～Ⅳ级的星形细胞瘤中有8例发生点突变,突变率25%(8/32),两者相较,相差显著(P<0.05)。结论人脑星形细胞瘤中存在PTEN/MMAC基因第五、第八外显子点突变。这可能是肿瘤恶性进展的重要事件之一。更多还原

【Abstract】 Objective To investigate the point mutations of exon5and exon8of the PTEN/MMAC gene and their roles in the development of human astrocytomas.Methods The mutations of the exon5and exon8point of the PTEN/MMAC gene were deter-min ated by multiplex polymerase chain reaction(PCR)and silver PCR-single-strand conformation polymorphism(PCR-SSCP)in52cases of astrocytomas,7cases of normal brain tissues and3cases of normal peripheral blood samples.Results Mutations of the exon5and exon8point of PTEN/MMAC gene were identified in8of52cases of astrocytomas(15.4%).The point mutation occurred in8of32cases of the gradeⅢ～Ⅳastrocytomas but in none of20cases of low-grade(Ⅰ～Ⅱ)astrocytomas.There was a significant difference in the mutation rate between the two groups(P<0.05).Conclusion These data suggest that the point mutations of the exon5and exon8of PTEN/MMAC gene probably play an important role in the malignant development of the astrocytomas.[更多还原