摘要
目的检测涎腺多形性腺瘤p53基因第7、8外显子的碱基突变,探讨该瘤的发生及生物学特征。方法从手术标本中选择涎腺多形性腺瘤14例。采用聚合酶链反应.单链构象多态性分析技术及DNA核酸序列测定方法对涎腺多形性腺瘤7例第7外显子异常者。3例第8外显子阳性者。5例第7外显子SSCP,阳性(其中3例第8外显子SCP也呈阳性)的肿瘤进行核酸序列测定。结果发现SSCP阳性的肿瘤相应的外显子碱基序列已发生突变。第7外显子的突变方式是碱基替换(点突变),突变位点在第242号密码子上(T→C)。第8外显子突变的密码子分别位于第281-296号位点上,突变的方式有碱基替换(C→A)和移码突变,包括碱基缺失(C缺失)以及碱基插人(G插入)。结论(1)延腺多形性腺瘤发生中p53基因第7、8外显子突变方式有多种,涉及多个密码子;(2)涎腺多形性腺瘤p53基因突变与恶性肿瘤基因突变类似,从基因水平揭示了该瘤“好种植、易复发”的生物学特征。(3)同一肿瘤中可发生多个密码子的碱基改变。
Objective To detect p53 exon 7 and & mutation and to study genesis and biological characteristics of pleomorphic adenma of salivary galand. Methods Polymerase chain reaction conformational polymorphism (PCR-SSCP) and DNA sequencing analysis were used. Results PCR-SSCP analysis showed that in 11 patients with positive SSCP, 7 showed abnormal exon 7 and 3 abonrmal exon 8.Comparison of SSCP results with DNA sequencing showed that patients all patients with gi3 exon 7 and & mutations were SSCP positive . Exon 7 mutation attern was point mutation(T→C). Exon 8 mutation pattern included base substitution (point mutation ) (C→A) and frame-shiftmutation (base inserion and base loss). Conclusions Poly codon and poly-pattern mutations appeared in p53 exon 7 and 8. Pleomorphic adenome of salivary galand was similar to malignant tumor in p53 gene mutation. Poly-codon mutation could occur in the same case.
出处
《中华医学杂志》
CAS
CSCD
北大核心
1999年第10期777-779,共3页
National Medical Journal of China
基金
卫生部优秀青年科技人才专项科研基金!96Q-061