中华检验医学杂志最新文献

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Relationship between apolipoprotein E gene polymorphism and cerebral infraction in Chinese type 2 diabetes mellitus patients 中国2型糖尿病患者载脂蛋白E基因多态性与脑梗死的关系
中华检验医学杂志 Pub Date : 2020-02-11 DOI: 10.3760/CMA.J.ISSN.1009-9158.2020.02.011
Xueying Yu, Na Wang, Jiang Li, Liang Ma, Yongtong Cao
{"title":"Relationship between apolipoprotein E gene polymorphism and cerebral infraction in Chinese type 2 diabetes mellitus patients","authors":"Xueying Yu, Na Wang, Jiang Li, Liang Ma, Yongtong Cao","doi":"10.3760/CMA.J.ISSN.1009-9158.2020.02.011","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1009-9158.2020.02.011","url":null,"abstract":"Objective \u0000To investigate the relationship between apolipoprotein E (APOE) gene polymorphism and cerebral infraction (CI) in Chinese type 2 diabetes mellitus (T2DM) patients. \u0000 \u0000 \u0000Methods \u0000This study included 245 samples of T2DM patients without cerebral infraction (CON group) (Male/Female, 128/117) and 270 samples of T2DM patients with cerebral infraction (CI group)(Male/Female, 145/125) from the department of endocrinology and neurology utilizing real-time fluorescence quantitative PCR technique. The t test and χ2 test were used to compare the differences between the two groups. \u0000 \u0000 \u0000Results \u0000Patients with a history of hypertension in the CI group (84.12%) were significantly higher than those in the CON group (70.42%) (χ2=15.91, P<0.05).The systolic blood pressure (142.78±20.52)mmHg of the CI group was significantly higher than that of the CON group (133.89±18.58)mmHg (t=-5.16, P<0.05).Compared with CON group, the frequency of genotypes of e2/e3 and e3/e4 in CI group was significantly higher, while the frequency of e3/e3 genotype was significantly lower (χ2=11.48, P<0.05); the allele frequency of APOE e4 was higher while e3 was lower in CI group than that in CON group (χ2=7.00, P<0.05). Logistic regression analysis showed that hypertension history (OR=1.95, P<0.05), high systolic blood pressure (OR=1.02, P<0.05), APOE genotypes of e2/e3 (OR=2.08, P<0.05) and e3/e4 (OR=1.85, P<0.05) were independent risk factors for cerebral infarction in T2DM patients. \u0000 \u0000 \u0000Conclusion \u0000The polymorphism of APOE gene may be related to cerebral infraction in Chinese T2DM patients. \u0000 \u0000 \u0000Key words: \u0000Diabetes mellitus, type 2; Diabetic angiopathies; Brain infarction; Apolipoprotein E4; Polymorphism, genetic","PeriodicalId":10096,"journal":{"name":"中华检验医学杂志","volume":"27 1","pages":"160-164"},"PeriodicalIF":0.0,"publicationDate":"2020-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86807597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The value of the Luminex magnetic bead immunoassay in detecting serum MBL in kidney transplantation patients Luminex磁珠免疫分析法在肾移植患者血清MBL检测中的价值
中华检验医学杂志 Pub Date : 2020-02-11 DOI: 10.3760/CMA.J.ISSN.1009-9158.2020.02.009
Zhihua Gong, Dan Yu, Haixia Li
{"title":"The value of the Luminex magnetic bead immunoassay in detecting serum MBL in kidney transplantation patients","authors":"Zhihua Gong, Dan Yu, Haixia Li","doi":"10.3760/CMA.J.ISSN.1009-9158.2020.02.009","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1009-9158.2020.02.009","url":null,"abstract":"Objective \u0000To evaluate the performance of serum mannose-binding lectin(MBL) using Luminex magnetic bead immunoassay, and further clarify the value of serum MBL in the patients of renal transplantation. \u0000 \u0000 \u0000Methods \u0000A retrospective study based on 110 patients who had underwent renal transplantation in Peking University First Hospital from February 2012 to May 2016 was carried out, and 50 healthy persons were selected as controls. The precision, linearity and correlation of serum MBL were evaluated using Luminex magnetic bead immunoassay, and compared with the traditional ELISA method. The frequency of infection and clinical rejection after transplantation was evaluated according to serum pre-transplant MBL level before transplantation, based on the Luminex method. Statistics analysis was implemented with SPSS 19.0 and MedCalc 12.7.0 software. \u0000 \u0000 \u0000Results \u0000The repeatability precision and inter-day precision were less than 7.15% and 8.44% respectively, and linear range was 0.05-11 233.00 μg/L detected by Luminex immunoassay.The linear range of MBL detected by ELISA was 3.20-4 202.70 μg/L. The Luminex method had a wider range compared with ELISA. Correlation analysis showed that the regression equation was Y=1.248 6X+231.81, and the correlation coefficient was r=0.978 (P<0.01). Bland-Altman analysis showed that the average deviation percentage was 37.4% (95%CI 33.7%-41.1%).The median (quartile) of pre-transplant serum MBL was 4 164.00 (2 124.00, 7 064.50) μg/L. Patients with a serum MBL<4 164.00 μg/L and MBL≥4 164.00 μg/L were defined as low-and high-level group, respectively. The incidence of infection among the low-level group and high-level group was 47.4% (27/57) and 28.3% (15/53)respectively, which showed a statistical difference(χ2=4.230, P<0.05). The incidence of rejection among the low-level group and high-level group was 43.9% (25/57) and 20.8% (11/53)respectively, which also showed a statistical difference(χ2=6.659, P<0.05). \u0000 \u0000 \u0000Conclusions \u0000The Luminex magnetic bead immunoassay has a wider linearity compared with ELISA in detecting serum MBL. Additionally, serum pre-transplant MBL level has a good predictive value for the infection and rejection reaction after transplantation. \u0000 \u0000 \u0000Key words: \u0000Kidney transplantation; Mannose-binding lectin; Immunoassay; Enzyme-linked immunosorbent assay","PeriodicalId":10096,"journal":{"name":"中华检验医学杂志","volume":"70 1","pages":"147-152"},"PeriodicalIF":0.0,"publicationDate":"2020-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79571404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of gut microbiota change in colorectal adenomatous polyps patients by 16S rRNA sequencing 16S rRNA测序分析结直肠腺瘤性息肉患者肠道菌群变化
中华检验医学杂志 Pub Date : 2020-02-11 DOI: 10.3760/CMA.J.ISSN.1009-9158.2020.02.014
Ciyan Chen, Yong Duan, Jian Mao, Min Niu
{"title":"Analysis of gut microbiota change in colorectal adenomatous polyps patients by 16S rRNA sequencing","authors":"Ciyan Chen, Yong Duan, Jian Mao, Min Niu","doi":"10.3760/CMA.J.ISSN.1009-9158.2020.02.014","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1009-9158.2020.02.014","url":null,"abstract":"Objective \u0000To explore the characteristics of gut microbiota change in colorectal adenomatous polyps (CAP), which has been considered as precancerous lesion for colorectal cancer. \u0000 \u0000 \u0000Methods \u0000Thirty patients with colon adenomatous polyps (CAP group) and thirty healthy individuals without adenomatous polyps (HC group) who underwent colonoscopy at the First Affiliated Hospital of Kunming Medical University from November 2017 to April 2018 were randomly collected. The biopsy mucosae were collected by endoscopic electrocoagulation, and DNA was extracted to amplify 16S rRNA V3-V4 region, followed high-throughput sequencing with Illumina MiSeq platform. The experimental results were analyzed using Wilcoxon test. \u0000 \u0000 \u0000Results \u0000The alpha diversity of CAP patients was higher than that of healthy controls (Chao & Ace P<0.01). A decreased abundance of Bacteroidetes (FC=0.38) was observed at phylum level(P<0.05). At genus level, the abundances of Bacteroides (FC=0.32) , Escherichia (FC=0.57) , Ruminococcus (FC=0.42) , Blautia (FC=0.27) , and Dorea (FC=0.57) were decreased (P<0.05), but those of Pseudomonas(FC=2.43), Lactococcus(FC=2.84), Geobacillus(FC=2.07), and Acinetibacter(FC=2.36) were increased in CAP patients (P<0.05). \u0000 \u0000 \u0000Conclusions \u0000Compared with healthy volunteers, there are significant differences in the abundance and diversity of the adenoma tissue in CAP patients, indicating that there is an imbalance of gut microbiota in the adenomatous polyps. The imbalance of intestinal microenvironment may contribute to the occurrence and development of CAP. \u0000 \u0000 \u0000Key words: \u0000Colonic neoplasms; Adenomatous polyps; Gastrointestinal microbiome; RNA, ribosomal, 16S; High-throughput nucleotide sequencing","PeriodicalId":10096,"journal":{"name":"中华检验医学杂志","volume":"14 1","pages":"175-181"},"PeriodicalIF":0.0,"publicationDate":"2020-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90093847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Inactivation of 2019 new coronary virus before quantitative real-time PCR testing 实时荧光定量PCR检测前2019新型冠状病毒灭活
中华检验医学杂志 Pub Date : 2020-02-11 DOI: 10.3760/CMA.J.ISSN.1009-9158.2020.0004
P. Chen, Y. He, Y. Huang, Yu Chen, H. Huang, X. Yu, X. He, J. Ouyang, B. Huang, M. Liu
{"title":"Inactivation of 2019 new coronary virus before quantitative real-time PCR testing","authors":"P. Chen, Y. He, Y. Huang, Yu Chen, H. Huang, X. Yu, X. He, J. Ouyang, B. Huang, M. Liu","doi":"10.3760/CMA.J.ISSN.1009-9158.2020.0004","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1009-9158.2020.0004","url":null,"abstract":"目的 \u0000探讨不同灭活处理对2019新型冠状病毒核酸检测的影响。 \u0000 \u0000 \u0000方法 \u0000回顾性分析中山大学附属第一医院2020年1月两例冠状病毒实时荧光定量聚合酶链反应( quantitative real-time polymerase chain reaction, qPCR)核酸检测阳性患者的咽拭子标本。56 ℃ 30 min和75%乙醇分别处理1:2,1:4,1:8,1:16,1:32比例稀释的咽拭子洗脱液,比较未灭活处理与灭活处理后样本的qPCR结果,并进行相关性及Bland-Altman分析。 \u0000 \u0000 \u0000结果 \u0000未灭活处理与56 ℃ 30 min和75%的乙醇灭活处理后样本循环阈值(CT)的相关系数均在0.99以上, P<0.001。未灭活与56 ℃ 30 min和75%的乙醇灭活CT值差异均在1以下。结果相关性明显并具有良好的一致性。 \u0000 \u0000 \u0000结论 \u0000使用56 ℃ 30 min和75%乙醇处理咽拭子标本,对后续2019新型冠状病毒核酸qPCR检测均无明显的影响。呼吁全国同行共同关注和参与2019新型冠状病毒的灭活后检测验证,推动2019新型冠状病毒的灭活检测,保护实验室检测人员的安全。","PeriodicalId":10096,"journal":{"name":"中华检验医学杂志","volume":"31 1","pages":"364-367"},"PeriodicalIF":0.0,"publicationDate":"2020-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89602995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Retrospective analysis of a ten-year screening project for G6PD deficiency in neonates in Hainan Province 海南省新生儿G6PD缺乏十年筛查项目回顾性分析
中华检验医学杂志 Pub Date : 2020-02-11 DOI: 10.3760/CMA.J.ISSN.1009-9158.2020.02.013
Zhendong Zhao, Xiulian Liu, Q. Dou, Xi Yang
{"title":"Retrospective analysis of a ten-year screening project for G6PD deficiency in neonates in Hainan Province","authors":"Zhendong Zhao, Xiulian Liu, Q. Dou, Xi Yang","doi":"10.3760/CMA.J.ISSN.1009-9158.2020.02.013","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1009-9158.2020.02.013","url":null,"abstract":"Objective \u0000To investigate the prevalence of glucose-6-posphate dehydrogenase (G6PD) deficiency and its gene mutations among neonates in Hainan Province. \u0000 \u0000 \u0000Methods \u0000The G6PD activity of dried blood spots of 914 520 neonates born from 2007 to 2016 was screened by fluorescence spot test in Hainan Province. The G6PD/6-glucose phosphate dehydrogenase (6GPD) ratio method was used to confirm the diagnosis of suspected specimens, and 3 012 of year 2016 dried blood spots of neonates with G6PD deficiency were genotyped using the multicolor probe-based fluorescence melting curve analysis. \u0000 \u0000 \u0000Results \u0000From 2007 to 2016, 36 314 positive cases were screened in 914 520 neonates. A total of 26 370 cases of G6PD deficiency were diagnosed with an incidence rate of 2.88%(26 370/914 520) in Hainan Province. The incidences of G6PD deficiency were 2.80%(21 688/774 555) in ethnic Han population, 3.45% (4 292/124 419) in ethnic Li population, 3.31%(212/6 401) in ethnic Miao population and 1.95%(178/9 145) in other ethnic groups. There were significant differences in the incidence of G6PD deficiency in ethnic Han population and ethnic Li population(χ2=161.261, P=0.000), ethnic Miao population(χ2=6.104, P=0.013) and other ethnic groups(χ2=24.283, P=0.000). A total of 13 mutation types were detected by gene detection in 3 012 confirmed cases of G6PD deficiency, of which c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T mutations and related combinations accounted for approximately 91.74%. Two mutations outside 16 genotypes, c.86 C>T and c.1311 C>T, were found by gene sequencing. \u0000 \u0000 \u0000Conclusions \u0000The incidence of G6PD deficiency among newborns in Hainan Province is high, and there are ethnic and regional differences. The dominant genetic mutations in Hainan Province are c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T. \u0000 \u0000 \u0000Key words: \u0000Glucosephosphate dehydrogenase deficiency; Incidence; Retrospective studies; Neonatal screening","PeriodicalId":10096,"journal":{"name":"中华检验医学杂志","volume":"64 1","pages":"171-174"},"PeriodicalIF":0.0,"publicationDate":"2020-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90746438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening strategy and clinical validation of extracellular vesicle biomarkers 细胞外囊泡生物标志物的筛选策略及临床验证
中华检验医学杂志 Pub Date : 2020-02-11 DOI: 10.3760/CMA.J.ISSN.1009-9158.2020.02.002
Bo Wu, Hang Zhang, Taixue An
{"title":"Screening strategy and clinical validation of extracellular vesicle biomarkers","authors":"Bo Wu, Hang Zhang, Taixue An","doi":"10.3760/CMA.J.ISSN.1009-9158.2020.02.002","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1009-9158.2020.02.002","url":null,"abstract":"Extracellular vesicles (EVs), one of the basic ways of intercellular interactions, carry a large number of biological substances and show great potential in disease diagnosis and treatment. Compared with tissue biopsy, its detection has the advantages of non-invasive, convenient sampling and real-time monitoring. Therefore, the research and clinical application of EVs biomarkers have become an international research hotspot. In order to encourage the development of screening and detection technologies for EVs biomarkers, effectively improve the accuracy of EVs biomarker diagnosis, and promote the transformation of EVs biomarker research results into the clinical application of disease, this review summarizes the significance of EVs in disease diagnosis and its biomarker screening strategy and clinical validation. \u0000 \u0000 \u0000Key words: \u0000Extracellular vesicles; Biomarkers; Clinical laboratory techniques; Validation studies","PeriodicalId":10096,"journal":{"name":"中华检验医学杂志","volume":"16 1","pages":"105-110"},"PeriodicalIF":0.0,"publicationDate":"2020-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80202506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Proposal for detection of 2019-nCoV nucleic acid in clinical laboratories 临床实验室检测新型冠状病毒核酸的建议
中华检验医学杂志 Pub Date : 2020-02-11 DOI: 10.3760/CMA.J.ISSN.1009-9158.2020.0003
Y. Tong, Ming Wang, Wan-zhou Xu, B. Qiao, Hongyun Zheng, Si-qing Mei, Xiaoyun He, Pingan Zhang, Yan Li
{"title":"Proposal for detection of 2019-nCoV nucleic acid in clinical laboratories","authors":"Y. Tong, Ming Wang, Wan-zhou Xu, B. Qiao, Hongyun Zheng, Si-qing Mei, Xiaoyun He, Pingan Zhang, Yan Li","doi":"10.3760/CMA.J.ISSN.1009-9158.2020.0003","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1009-9158.2020.0003","url":null,"abstract":"In December, the outbreak of a novel coronavirus (2019-nCoV) in Wuhan, China, has attracted extensive global attention. On January 20, 2020,the Chinese health authorities upgraded the coronavirus to a Class B infectious disease in the Law of the People's Republic of China on the Prevention and Treatment of Infectious Diseases, and considered it as Class A infectious diseases in disease control and prevention. On January 22, 2020, the 2019-nCoV nucleic acid detection test was listed as the diagnostic criteria in the \"guidelines for diagnosis and treatment of pneumonia due to 2019-nCoV (Trial Version 2)\" . Therefore, standardizing the operation process of the 2019-nCoV nucleic acid detection in clinical laboratories has become a top priority. It is of paramount importance to establish standard protocols for detection of the 2019-nCoV nucleic acids in clinical laboratories to improve the reliability of the results and ensure the biosafety of laboratory personnel. \u0000 \u0000 \u0000Key words: \u0000Coronavirus; RNA, viral; Polymerase chain reaction; Laboratories, hospital; Medical laboratory science; Benchmarking; Containment of biohazards","PeriodicalId":10096,"journal":{"name":"中华检验医学杂志","volume":"88 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85598462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Understanding the Influence Factors in Viral Nucleic Acid Test of 2019 novel Coronavirus (2019-nCoV)/ 中华检验医学杂志 Understanding the Influence Factors in Viral Nucleic Acid Test of 2019 novel Coronavirus (2019-nCoV)/ 中华检验医学杂志
中华检验医学杂志 Pub Date : 2020-02-08 DOI: 10.3760/CMA.J.ISSN.1009-8158.2020.0002
M. Xi, Q. Wei, Fu Qihua, Guan Ming
{"title":"Understanding the Influence Factors in Viral Nucleic Acid Test of 2019 novel Coronavirus (2019-nCoV)/ 中华检验医学杂志","authors":"M. Xi, Q. Wei, Fu Qihua, Guan Ming","doi":"10.3760/CMA.J.ISSN.1009-8158.2020.0002","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1009-8158.2020.0002","url":null,"abstract":"At present, the prevention and control of new coronavirus has entered a critical period. However, the use of quantitative real-time PCR (qRT-PCR) assays for the detection of viral nucleic acid, as a crucial diagnostic approach, has been doubted in clinical practice. Herein, we have reviewed the current status of epidemic prevention and control, latest development of detection technologies, disease characteristics, clinical sampling and transport. We have also discussed the factors that may affect the performance of viral nucleic acid detection, and suggested some effective methods to improve the detection performance of the assays. \u0000 \u0000Key words: \u0000Novel coronavirus pneumonia; RNA viruses; Molecular diagnostic techniques; Root cause analysis; Nucleic acid detection","PeriodicalId":10096,"journal":{"name":"中华检验医学杂志","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78411366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 27
Performance verification of a time-of-flight mass spectrometry based cardiovascular drug-related polygene detection system 基于飞行时间质谱的心血管药物相关多基因检测系统的性能验证
中华检验医学杂志 Pub Date : 2020-01-11 DOI: 10.3760/CMA.J.ISSN.1009-8158.2020.01.005
Z. Liu, Kai Cui, Lin-lin Yang
{"title":"Performance verification of a time-of-flight mass spectrometry based cardiovascular drug-related polygene detection system","authors":"Z. Liu, Kai Cui, Lin-lin Yang","doi":"10.3760/CMA.J.ISSN.1009-8158.2020.01.005","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1009-8158.2020.01.005","url":null,"abstract":"Objective \u0000Toestablish and verify the method of genetic polymorphisms using time-of-flight mass spectrometry as a polygene testing platform. \u0000 \u0000 \u0000Methods \u0000998 cases of DNA samples and 20 cases of whole blood samples were collected from Fuwai hospital of Chinese academy of medical sciencesduring September 2017 to October 2018, including 512 cases of males and 506 cases of females.280 patients aged 18-30, 442 patients aged 31-64, and 296 patients aged ≥65.11 cardiovascular drugsrelatedgenes in 998 DNA samples were detected by time-of-flight mass spectrometry to evaluate the compliance rate compared with identifiedresults. 20whole blood samples were selected to detect 11 genes using both time-of-flight mass spectrometry and Sanger sequencing. The results were compared twice, and accuracy was evaluated according to Sanger sequencing as the gold standard. Ten cases of genomic DNA with wild-type loci were selected for specific evaluation by time-of-flight mass spectrometry. Samples containing all heterozygous genotypes were measured after gradient dilution to evaluate the detection sensitivity of the new method. Samples containing all 49 genotypes (two genotypes were not found because they are rare in Chinese population) were used in order to do the inter-assay and intra-assay precision evaluation. An anti-interference study was performed by selecting wild and homozygous mutant samples of represented heterozygous peak shape. \u0000 \u0000 \u0000Results \u0000The results showed that the compliancerate of the single retrospective sample was over 99.5%. The resultsof time-of-flight mass spectrometry and Sanger sequencing was the same. The minimum detection limit of DNA was 0.4 ng, the inter-assay and intra-assay precision were 100%, and the degradation ability of the UNG enzyme was 105 copies/μl in aerosol.The reaction system has a strong anti-interference ability to the genome and intermediate aerosol, and no cross-contamination between different matrices of the chip. \u0000 \u0000 \u0000Conclusions \u0000The time-of-flight mass spectrometry as a polygene detection system shows agood detection performance and can be applied to clinical detection. In addition, this paper established a performance verification research scheme based on the time-of-flight mass spectrometry platform polygene detection system. \u0000 \u0000 \u0000Key words: \u0000Mass spectrometry; Genetic testing; Multilocus sequence typing; Cardiovascular agents","PeriodicalId":10096,"journal":{"name":"中华检验医学杂志","volume":"105 1","pages":"51-57"},"PeriodicalIF":0.0,"publicationDate":"2020-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75956550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Research progress of diagnosis platforms based on CRISPR/Cas system 基于CRISPR/Cas系统的诊断平台研究进展
中华检验医学杂志 Pub Date : 2020-01-11 DOI: 10.3760/CMA.J.ISSN.1009-9158.2020.01.012
Xiaoyu Gu, Gui-hua Wang, S. Ju
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