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高分辨率熔解曲线分析技术检测BRAF基因V600E突变方法的建立及初步临床应用 被引量:2

Establishment and primary clinical application of detecting BRAF V600E mutations by HRM analysis
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摘要 目的建立高分辨率熔解曲线分析技术(high resolution melting,HRM)检测BRAF基因V600E突变的方法,并探讨其在临床检测中的应用价值。方法用所建方法检测16例甲状腺乳头状癌患者超声引导下细针穿刺抽吸活检标本,并与测序法结果进行比较分析。结果所建HRM检测方法 Ct值与Tm的CV值均较小,重复性好。HRM法BRAF基因V600E突变检测标本的结果与测序法相比较,突变检出率分别为43.75%和40.00%,敏感性为100.00%,特异性为90.00%。结论成功建立的HRM法检测BRAF基因V600E突变敏感性高,特异性强,重复性好,操作简便,节约时间,成本低,适合细针穿刺抽吸活检标本检测BRAF基因V600E突变。 Objective To establish a method for detecting BRAF V6OOE mutations by high resolution melting (HRM) analysis and to evaluate its clinical application value. Methods Ultrasound guided fine-needle aspiration biopsy tissues of 16 patients with papillary thyroid carcinoma were detected by HRM. The results of HRM were compared with direct sequencing method. Results According to the repeatability analysis, the value of coefficient of variance (CV) of Tm and Ct was very small which with good repeatability. The total BRAF V600E mutation rate was 40.00% detected by direct sequencing and 43.75% detected by HRM. The sensitivi- ty of HRM assay was 100.00%, the specificity of HRM assay was 90.00%. Conclusions The method for de- tection of BRAF V600E mutations by HRM analysis was established successfully. It is appropriate for detecting BRAF V6OOE mutations by HRM analysis. It possesses high specificity, good sensitivity, strong reproducibility, simple operation, saving time and low cost quality.
出处 《中国肿瘤外科杂志》 CAS 2017年第4期243-245,共3页 Chinese Journal of Surgical Oncology
基金 无锡市卫计委面上项目(No.MS201536)
关键词 BRAF基因V600E 乳头状 甲状腺乳头状癌 高分辨率熔解曲线分析技术 BRAF V6OOE Carcinoma, papillary Papillary thyroid carcinoma High resolution melting analysis
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