Rapid, Loop-Mediated Isothermal Amplification Detection of Celiac Disease Risk Alleles

被引：3
作者：
Erlichster, Michael [1 ,2 ]
Tye-Din, Jason A. [3 ,5 ,6 ,7 ]
Varney, Michael D. [9 ]
Skafidas, Efstratios [1 ,4 ,10 ]
Kwan, Patrick [2 ,4 ,8 ]
机构：
[1] Univ Melbourne, Ctr Neural Engn, Melbourne, Vic, Australia
[2] Univ Melbourne, Dept Med, Melbourne, Vic, Australia
[3] Univ Melbourne, Dept Med Biol, Melbourne, Vic, Australia
[4] Univ Melbourne, Dept Elect & Elect Engn, Melbourne, Vic, Australia
[5] Walter & Eliza Hall Inst Med Res, Div Immunol, Melbourne, Vic, Australia
[6] Murdoch Childrens Res Inst, Melbourne, Vic, Australia
[7] Royal Melbourne Hosp, Dept Gastroenterol, Melbourne, Vic, Australia
[8] Royal Melbourne Hosp, Dept Neurol, Melbourne, Vic, Australia
[9] Australian Red Cross Blood Serv, Victorian Transplantat & Immunogenet Serv, Melbourne, Vic, Australia
[10] Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia
来源：
JOURNAL OF MOLECULAR DIAGNOSTICS | 2018年 / 20卷 / 03期
关键词：
DIAGNOSTIC-ACCURACY; DNA AMPLIFICATION; VISUAL DETECTION; CARE; POINT; PREVALENCE; LAMP; GASTROENTEROLOGY; PATHOGENESIS; GUIDELINES;
D O I：
10.1016/j.jmoldx.2018.01.005
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
Human leukocyte antigen (HLA) genotyping has become a useful investigation in the diagnostic work up of celiac disease (CD), with utility in risk stratification and screening. However, broad application of this technology has been hindered by the cost and time burden of conventional laboratory-based assays. We have developed and validated CD loop-mediated isothermal amplification (CD-LAMP), a LAMP assay, which enables rapid identification of the signature CD risk genotypes, HLA-DQ2.5, HLA-DQ8, HLA-DQ2.2, and HLA-DQA1*05. Sample-to-answer is achieved in approximately 65 minutes without DNA purification, thermal cycling, or specialized analytical equipment. CD-LAMP genotyping of samples was 100% concordant with accredited pathology genotyping on a panel of 40 blood and 20 saliva samples. In a panel of 100 purified DNA samples, genotyping of the high-risk DQ2.5 genotype was 100% concordant with accredited pathology genotyping, with slightly reduced sensitivity for the DQ8 genotype (97.1%) and reduced specificity for the DQ8 (93.9%) and DQ2.2 (95.1%) genotypes. CD-LAMP results are easily visualized and instrument free through the addition of a DNA intercalating dye after amplification. Combined with point-of-care antibody testing, CD-LAMP may enable immediate, confident CD diagnosis at a low cost in the clinical setting.
引用
收藏
页码：307 / 315
页数：9
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