P53基因测序在恶性肿瘤诊断中的应用价值研究

①目的研究P53基因测序在临床肿瘤诊断中的应用价值。②方法采用聚合酶链式反应一直接测序方法对肺癌、胃癌、大肠癌、肝癌、乳腺癌、鼻咽癌、甲状腺癌、宫颈癌及支气管和胃粘膜非典型增生的活检标本，急、慢性白血病的外周血标本，肺癌胸水、肝癌腹水标本等临床肿瘤样本进行P53基因外显子5、6、7、8序列分析。⑧结果正常对照组未发现突变、所测的几种常见肿瘤样本的活检标本的突变率一般为30％～50％，胸、腹水标本突变率与相应肿瘤的活检标本相近，突变大多位于外显子7、8。存在突变的病例2年病死率明显升高。④结论P53基因测序在常见恶性肿瘤诊断和判断预后等有一定的参考价值。

A study of diagnostic value of P53 gene sequencing in clinical malignant neoplasm

Objective To study the value of p_ 53 gene sequencing in clinical diagnosis of malignant cancers.Methods Polymerase chain reaction (PCR) and directy sequencing methods was used to analyse exons 5,6,7,8 of human P_ 53 gene.Over 200 biopsys of patient of lung cancer (LC),gastric cancer(GC),large intestic cancer(LIC),hepatic cell cancer(HCC),breast cancer(BC),nasopharyngeal cancer(NC),thyroid cancer(TC),cervical cancer(CC),pleura effusion,peritoneal effusion of carcinoma were detected.P_ 53 gene mutations in patients with mucosal atypical hyperplasia of bronchus and stomach were also examined.Results There was no mutation in blood samples of normal person.It was found that there about 30%~50% cases of LC,GC,LIC,HCC,BC,NC,TC are P_ 53 mutations in their biopsy,the positive mutation rate of in pleura effusion or in peritoneal effusion samples was nearly equal to that in biopsy.It also found that the two years' mortality of patients with P_ 53 mutation were arised.Conclusion P_ 53 gene sequencing is valuable in clinical genetic diagnosis and prognosis.