摘要
华氏巨球蛋白血症（Waldenstrom’s macroglobulinemia,WM）是一种罕见的,不可治愈的淋巴浆细胞淋巴瘤（lymphoplasmacytic lymphoma,LPL）。MYD88 L265P突变在华氏巨球蛋白血症患者中检出率很高（〉90%）,可以用于疾病的鉴别和诊断,因此,开发一种高灵敏度的检测方法对这个突变进行检测具有较大的临床价值。通过将ARMS技术与Clamping PCR技术相结合,建立的新型MYD88 L265P突变富集检测体系可以满足这一需求。优化后,该检测体系检出限为102拷贝,灵敏度为0.1%,对19份临床样品的双盲试验中,检测结果准确率达到100%。所建立的方法具有灵敏、准确的优势,适用于华氏巨球蛋白血症的早期诊断,有较为广阔的应用前景。
Waldenstrom＇s macroglobulinemia（ WM） is a rare,incurable lymphoplasmacytic lymphoma（ LPL）. Research has showed that MYD88 L265 P is commonly detected in patients with WM（ 90%）.Therefore this mutation could be used as a biomarker for disease diagnosis and differentiation. Current detection methods used at this mutation are of low sensitivity,which limit the clinical utility for early diagnosis. Thus,there is an urgent need for a more sensitive method to fulfill the requirement of early diagnosis. By combining ARMS and clamping PCR together,a novel detection system with higher sensitivity was developed. The limit of detection of the new system was 10~2 copies and the sensitivity was 0. 1%. A double-blind trial with 19 clinical samples was conducted and the results completely accorded with the sample information. This new technique has a huge potential in clinical practices,especially early diagnosis,due to its increased accuracy and sensitivity.
作者
陈弘远
陈红岩
乔纯
李建勇
卢大儒
CHEN Hong-yuan1, CHEN Hong-yan1, QIAO Chun2, LI Jian-yong2, LU Da-ru1(1. School of Life Science, Fudan University, Shanghai 200438, China; 2. The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Key Laboratory of Hematology of Nanjing Medical University, Collaborative Innovation Center for Cancer Personalized Medieine, Nanjing 210029, China)
出处
《中国生物工程杂志》
CAS
CSCD
北大核心
2018年第9期35-40,共6页
China Biotechnology
基金
国家重点研发计划(2017YFC0907501)
国家自然科学基金(31571371)资助项目
