喉癌p53基因点突变研究

目的　探讨喉癌组织 p5 3基因点突变的频率、特征。方法　选用 P5 3蛋白表达阳性的喉癌标本2 2例 ,正常喉组织 2例 ,采用聚合酶链反应 -限制性内切酶片段长度多态性 (PCR- RFL P)、单链构象多态性 (SSCP)及 DNA直接测序法分析 p5 3基因第 7外显子第 2 49位密码子的点突变。结果　在 2 2例喉癌中有 3例发生突变 ,分别位于 2 48、2 5 0及 2 5 4密码子 ,表现为碱基 C的丢失和 A→ T颠换 ,但无 2 49密码子突变。结论　在喉癌中 p5 3基因第 7外显子的第 2 49位密码子的突变可能并不常见

Pilot Study on Mutations of p53 Gene in Laryngeal Carcinoma Zhou Guangyao*, Zhang Xiaoqing, Lui Shixi, Lin Daicheng, Liang Chuanyu, Yang Xiuying. *Department of Otolaryngology, The First Affiliated Hospital, WCUMS, Chengdu 610041, China

Objective To determine the characteristic and frequency of the point mutation of p53 gene. Methods 22 cases of laryngeal squamous cell carcinoma (LSCC) with positive expression of mutant p53 protein and 2 cases of normal laryngeal epithelium as control were examined by means of polymerase chain reaction restriction fragment length polymorphism (PCR RFLP), single strand conformation polymorphism (SSCP) and DNA sequencing analyses. Results 3 cases of LSCC had the point mutation on codons 248, 250 and 254 of exon 7 in p53 gene. None of the cases had the point mutation on codon 249. Conclusion These findings suggest that the point mutation on codon 249 of exon 7 in p53 gene may be uncommon in LSCC. SSCP and DNA sequencing analyses are sensitive and rapid methods for detecting p53 gene mutation.