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目的 探讨变性高压液相色谱 (DHPLC)法分析肺癌患者痰标本Rb2 /p130和 p5 3突变及其作为分子诊断标记的可行性。方法 DHPLC法分析 4 7例患者痰标本 [35例肺癌 (男 2 2例 ,女13例 ,年龄 16～ 81岁 ;其中腺癌 17例 ,鳞癌 12例 ,小细胞癌 4例 ,肺泡癌 1例 ,腺鳞癌 1例 ) ,12例对照 (男 7例 ,女 5例 ,年龄 38～ 6 8岁 ;其中结核 1例 ,肺炎 1例 ,支气管扩张症 2例 ,肺泡蛋白沉积症 1例 ,结节病 1例 ,多发性软骨炎 1例 ,慢性阻塞性肺疾病 5例 ) ]Rb2 / p130基因Exon19～ 2 2和 p5 3基因Exon 5～ 9突变。结果 肺癌患者Rb2 /p130突变检出率为 2 2 86 % (8/ 35 ) ,p5 3突变检出率为2 8 5 7% (10 / 35 ) ,对照者均未检出 1例 (P =0 0 4 9,P =0 0 4 6 )。作为肺癌诊断分子标记 ,Rb2 / p130特异度 10 0 % ,灵敏度 2 2 86 % ;p5 3特异度 10 0 % ,灵敏度 2 8 5 7% ;联合检测Rb2 / p130和 p5 3特异度10 0 % ,灵敏度 5 1 4 3%。结论 联合分析痰标本Rb2 / p130和p5 3基因突变可提高诊断的灵敏度。
Objective To investigate the feasibility of using the method of denaturing high pressure liquid chromatography (DHPLC) to analyze the mutations of Rb2 / p130 and p5 3 in sputum specimens of patients with lung cancer and to evaluate their molecular diagnostic markers. Methods DHPLC was used to analyze sputum samples of 47 patients [35 patients with lung cancer (22 males and 13 females, aged 16-81 years; 17 with adenocarcinoma, 12 with squamous cell carcinoma, 4 with small cell carcinoma, 1 with alveolar carcinoma One case of adenosquamous carcinoma), 12 cases of control (7 males and 5 females, aged 38 ~ 68 years old; including tuberculosis in 1 case, pneumonia in 1 case, bronchiectasis in 2 cases, alveolar proteinosis in 1 case, 1 case of sarcoidosis, 1 case of multiple chondritis and 5 cases of chronic obstructive pulmonary disease.] Exon19 ~ 2 2 of Rb2 / p130 and Exon 5 ~ 9 of p5 3 were mutated. Results The positive rate of Rb2 / p130 mutation in lung cancer patients was 2286% (8/35), and the positive rate of p5 3 mutation was 2857% (10/35) in lung cancer patients, but none in control subjects (P = 0 0 4 9, P = 0 0 4 6). The specificity of Rb2 / p130 was 10%, the sensitivity was 2286%. The specificity of p5 3 was 100% and the sensitivity was 28 55%. The specificity of Rb2 / p130 and p530 was 100% Sensitivity 5 1 4 3%. Conclusion The combined analysis of sputum specimens Rb2 / p130 and p5 gene mutations can improve the diagnostic sensitivity.