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直接测序法与ARMS法检测甲状腺乳头状微小癌组织中BRAF基因突变的比较 被引量:5

Comparison of BRAF mutation detection in patients with papillary thyroid microcarcinoma by ARMS and direct sequencing
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摘要 目的:探讨直接测序法与蝎形探针扩增阻滞突变系统(Scorpions amplification refractory mutation system,scorpions ARMS法)检测甲状腺乳头状微小癌组织中(Papillary thyroid microcarcinoma,PTMC)的鼠类肉瘤滤过性毒菌致癌同源体B1(BRAF)基因突变的特异性和敏感性。方法:采用直接测序法和ARMS法同时检测56例甲状腺乳头状微小癌患者组织中BRAF基因突变情况。结果:56例患者甲状腺癌组织中,直接测序法与ARMS法所检出BRAF基因突变阳性率分别为32.1%和82.9%,敏感度分别为39.1%和100%,前者均显著低于后者(P<0.01)。结论:检测甲状腺乳头状微小癌组织BRAF基因突变时ARMS方法较直接测序法具有更好的敏感性,癌组织小的标本BRAF基因突变检测更适合用ARMS法。 Objective: To investigate the sensitivity and the specificity of scorpions amplification refractory mutation system (ARMS) in comparing with that of direct DNA sequencing in the detection of BRAF gene mutations in patients with papillary thyroid microcarcinoma. Methods: Direct sequencing and ARMS were used simultaneously to detect BRAF mutation status in 56 patients with PTMC. Results: BRAF mutations were identified in 46 cases with a mutation rate of 82.9% by ARMS ,while in 18 cases with a mutation rate of 32. 1% by direct sequencing. Besides,the sensitivity of ARMS was 100% and that of direct sequencing was 39. 1%. There were significant differences of both mutation rate and sensitivity between two methods (P〈0. 01 ). Conclusion: Compared to direct sequencing, ARMS gains a higher sensitivity in the detection of BRAF mutations in samples with tiny lesions.
出处 《中国免疫学杂志》 CAS CSCD 北大核心 2014年第11期1514-1516,1522,共4页 Chinese Journal of Immunology
基金 吉林省科技厅资助项目(20120733)
关键词 甲状腺乳头状微小癌 BRAF基因突变 测序法 蝎形探针扩增阻滞突变系统 Papillary thyroid microcarcinoma BRAF gene mutation DNA sequencing Scorpions amplification refractory mutation system
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