[1]宦丽君,王鹏云.口腔黏膜脱落细胞用于ALDH2基因分型即时检测性能评估研究[J].医学信息,2022,35(24):55-58.[doi:10.3969/j.issn.1006-1959.2022.24.011]
　HUAN Li-jun,WANG Peng-yun.Performance Evaluation of Exfoliated Oral Mucosal Cells Used in ALDH2 Genotyping Point-of-care Testing[J].Journal of Medical Information,2022,35(24):55-58.[doi:10.3969/j.issn.1006-1959.2022.24.011]
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口腔黏膜脱落细胞用于ALDH2基因分型即时检测性能评估研究()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
35卷
期数:
2022年24期
页码:
55-58
栏目:
论著
出版日期:
2022-12-15

文章信息/Info

Title:
Performance Evaluation of Exfoliated Oral Mucosal Cells Used in ALDH2 Genotyping Point-of-care Testing
文章编号:
1006-1959（2022）24-0055-04
作者:
宦丽君; 王鹏云
（华中科技大学同济医学院附属梨园医院检验科，湖北 武汉 430077）
Author(s):
HUAN Li-jun; WANG Peng-yun
(Department of Laboratory Medicine,Liyuan Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430077,Hubei,China)
关键词:
口腔黏膜脱落细胞; ALDH2基因分型; 即时检测; 性能评估
Keywords:
Exfoliated oral mucosal cells; ALDH2 genotyping; Point-of-care testing; Performance evaluation
分类号:
R781.5
DOI:
10.3969/j.issn.1006-1959.2022.24.011
文献标志码:
A
摘要:
目的 将口腔黏膜脱落细胞用于ALDH2基因分型即时检测（POCT）试剂盒进行性能验证研究，建立本实验室分子诊断性能验证程序性能验证的标准化方法。方法 根据《分子诊断检验程序性能验证指南》（CNAS-GL039），结合试剂盒说明书，以血液基因组DNA进行荧光定量PCR法为对比方法，Sanger测序为金标准，评价口腔黏膜脱落细胞检测ALDH2基因分型POCT方法的符合率、精密度、检出限及抗干扰能力。结果 20例标本POCT法与荧光定量PCR及Sanger测序结果均完全一致，符合率为100%；对1例标本进行批内重复5次及批间重复15次的分型结果完全一致，且Ct值变异系数（CV）均＜5%；拭子刮拭口腔内腮部1次所获得的口腔黏膜细胞即可进行有效扩增；唾液和口腔菌落两种干扰物质并未影响基因型的判定。结论 人类ALDH2基因多态性检测试剂盒（POCT法）符合ISO15189 质量管理要求，且口腔拭子取样可缩短检测时间，提高检测效率，可以为临床提供准确可靠的检测结果。
Abstract:
Objective To verify the performance of exfoliated oral mucosal cells used in ALDH2 genotyping point-of-care testing (POCT), and to establish the standardized method for the performance verification for molecular diagnostic procedures in local laboratory.Methods According to "Guidance on the Performance Verification for Molecular Diagnostic Procedures" (CNAS-GL039) combined with the reagent instruction, using fluorescent quantitative PCR of blood genomic DNA as the contrast method and Sanger sequencing as the gold standard, POCT of ALDH2 genotyping using exfoliated oral mucosal cells was evaluated for its coincidence rate, precision, detection limit and anti-interference ability.Results The results of POCT for ALDH2 gene polymorphism test in 20 clinical samples were completely consistent with the results of fluorescence quantitative PCR and Sanger sequencing, and the coincidence rate was 100%.The genotyping results of 5 intra-batch replicates and 15 inter-batch replicates in one sample were completely consistent, and the coefficient of variation (CV) of Ct values were all＜5%. The exfoliated oral mucosal cells obtained from the oral parotid swabbed once could be effectively amplified to genotyping. Interference substances such as saliva and oral colonies had no effect on the results.Conclusion The kit for human ALDH2 gene polymorphism detection (POCT) conformed to ISO15189 quality management requirements. In addition, oral swab sampling can shorten detection time and improve detection efficiency, which can provide accurate and reliable detection results for clinical practice.

参考文献/References:

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更新日期/Last Update: 1900-01-01