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Revolutionizing Non-Invasive Biomarker Discoveries: The Power of Methylation Screening Analysis in Cell-Free DNA Liquid Biopsy
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作者 Min Seob Lee Na Young Min +2 位作者 Hyuk Jung Kwon Yonjung Kim Isaac Kise Lee 《Open Journal of Genetics》 CAS 2023年第1期48-74,共27页
Epigenetic changes of DNA, including methylation, have long been recognized as key indicators of various diseases, including aging, cancer, and neurological disorders. Biomarker discoveries based on distinct methylati... Epigenetic changes of DNA, including methylation, have long been recognized as key indicators of various diseases, including aging, cancer, and neurological disorders. Biomarker discoveries based on distinct methylation patterns for both hypermethylation and hypomethylation lead the way in discovery of novel diagnosis and treatment targets. Many different approaches are present to detect the level of methylation in whole genome (whole genome bisulfite sequencing, microarray) as well as at specific loci (methylation specific PCR). Cell-free DNA (cf-DNA) found in body fluids like blood provides information about DNA methylation and serves as a less invasive approach for genetic screening. Cell-free DNA and methylation screening technologies, when combined, have the potential to transform the way we approach genetic screening and personalized therapy. These technologies can help enhance disease diagnostic accuracy and inform the development of targeted therapeutics by providing a non-invasive way for acquiring genomic information and identifying disease-associated methylation patterns. We highlight the clinical benefits of using cell-free DNA (cf-DNA) liquid biopsy analysis and available methylation screening technologies that have been crucial in identifying biomarkers for disease from patients using a non-invasive way. Powering such biomarker discoveries are various methods of cf-DNA methylation analysis such as Bisulfite Sequencing and most recently, Methylation-Specific Restriction Enzyme (MSRE-seq) Analysis, paving the way for novel epigenetic biomarker discoveries for more robust diagnosis such as early disease detection, prognosis, monitoring of disease progression and treatment response as well as discovery of novel drug targets. 展开更多
关键词 Epigenetics Biomarkers cell-free dna (cf-dna) METHYLATION Liquid Biopsy Drug Target Methylation-Specific Restriction Enzyme (MSRE) Cancer Epigenetic Drugs HYPERMETHYLATION HYPOMETHYLATION
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The use of cell free DNA in the diagnosis of HCC 被引量:1
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作者 Bubu A.Banini Arun J.Sanyal 《Hepatoma Research》 2019年第9期21-30,共10页
Hepatocellular carcinoma(HCC)is one of the most common malignant tumors worldwide and is associated with high mortality.The currently used methods for diagnosing HCC,including imaging modalities and liver biopsy,detec... Hepatocellular carcinoma(HCC)is one of the most common malignant tumors worldwide and is associated with high mortality.The currently used methods for diagnosing HCC,including imaging modalities and liver biopsy,detect tumors at a relatively advanced stage or are invasive.Non-invasive biomarkers are urgently needed to facilitate screening and early diagnosis of HCC,as well as treatment monitoring and detection of tumor recurrence.Liquid biopsy,the analysis of blood or other body fluids to obtain genetic and epigenetic information,has historically been applied to other types of cancer including breast and prostate cancer.Over the past few decades,liquid biopsy analysis has shed significant insights on genetic and epigenetic aberrations in HCC detectable in peripheral blood.Aberrations in nucleic acids found circulating freely in body fluids or contained within extracellular vesicles such as exosomes or microvesicles show potential clinical utility as non-invasive biomarkers.In this review,we present available literature on cell-free nucleic acids in the diagnosis of HCC. 展开更多
关键词 Hepatocellular carcinoma liquid biopsy cell free nucleic acid cell free dna EXOSOMES MICROVESICLES biomarkers
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Value of circulating cell-free DNA in diagnosis of hepatocelluar carcinoma 被引量:16
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作者 Ken Chen Hong Zhang +6 位作者 Li-Na Zhang Shao-Qing Ju Jing Qi Dong-Feng Huang Feng Li Qun Wei Jing Zhang 《World Journal of Gastroenterology》 SCIE CAS 2013年第20期3143-3149,共7页
AIM:To investigate the value of combined detection of circulating cell-free DNA(cfDNA),a-fetal protein(AFP) and a L-fucosidase(AFU) for diagnosis of hepatocellular carcinoma(HCC).METHODS:Serum samples from 39 HCC pati... AIM:To investigate the value of combined detection of circulating cell-free DNA(cfDNA),a-fetal protein(AFP) and a L-fucosidase(AFU) for diagnosis of hepatocellular carcinoma(HCC).METHODS:Serum samples from 39 HCC patients and 45 normal controls were collected.Branched DNA(bDNA) was used to detect the level of cfDNA,and a receiver operating characteristic curve was employed to evaluate the diagnostic sensitivity,specificity,accuracy,positive predictive value,negative predictive value,positive likelihood ratio,negative likelihood ratio and Youden index,and to assess the diagnostic efficiency and their correlations with the clinicopathological features.AFP and AFU were detected by chemiluminescence and colorimetry,respectively.The significance of combined detection of the three biomarkers was discussed.RESULTS:cfDNA level was increased in 22 of the 39 HCC samples and in 2 of the 45 normal controls.cfDNA level in HCC samples was significantly higher than that in normal controls(P < 0.05).There were significant differences in sex and extra-and intrahepatic metastasis(P < 0.05).There was no significant correlation between cfDNA,AFP and AFU in the detection of HCC.The sensitivity of combined detection of cfDNA with one marker(AFP or AFU) and cfDNA with two markers(AFP and AFU) was 71.8%,87.2% and 89.7% vs 56.4%,53.8% and 66.7% for cfDNA,AFP and AFU used alone,respectively,the difference being statistically significant(P < 0.05).CONCLUSION:Quantitative analysis of cfDNA is sensitive and feasible,and the combined detection of cfDNA with AFP or AFU or both could improve the diagnostic sensitivity for HCC. 展开更多
关键词 ALU BRANCHED dna CIRCULATING cell free dna DIAGNOSIS HEPATOcellULAR carcinoma
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血浆cfDNA甲基化联合检测在肝癌诊断中的价值
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作者 夏娜梅 赵言腾 +4 位作者 杨乾坤 董兰兰 张玮 黄月 臧文巧 《河南医学研究》 CAS 2024年第11期1921-1925,共5页
目的 探讨血浆循环游离DNA(cfDNA)中GNB4、TCF24、Riplet、ACP1和TSPYL5基因甲基化对肝癌诊断的临床价值。方法 利用滑动窗口技术在公共数据库中筛选肝癌和正常组织间的差异甲基化标志物并分析其甲基化水平。从郑州大学第一附属医院收... 目的 探讨血浆循环游离DNA(cfDNA)中GNB4、TCF24、Riplet、ACP1和TSPYL5基因甲基化对肝癌诊断的临床价值。方法 利用滑动窗口技术在公共数据库中筛选肝癌和正常组织间的差异甲基化标志物并分析其甲基化水平。从郑州大学第一附属医院收集肝癌、肝硬化组织和健康人白细胞样本,Sanger测序检测筛选出的标志物的甲基化水平,选出敏感度和特异度较好的标志物。收集24例肝癌、23例肝硬化和99例健康人血浆,通过甲基化特异性PCR检测上述标志物单独和组合时对肝癌的诊断性能。结果 5个标志物(GNB4、TCF24、Riplet、ACP1和TSPYL5)在肝癌样本中显著高甲基化。组织测序结果显示除TCF24外,其他标志物在肝硬化组织中的甲基化阴性率均大于80.0%。在血浆样本验证中,GNB4单独诊断肝癌的曲线下面积(AUC)最大,为0.765,敏感度为66.7%,特异度为91.8%。在多基因组合中,GNB4+TSPYL5的诊断性能最佳,AUC值为0.893,敏感度为83.3%,特异度为90.2%。结论 GNB4、Riplet、ACP1和TSPYL5甲基化可用于肝癌诊断,且联合诊断性能优于单一基因。 展开更多
关键词 肝癌 循环游离dna 甲基化 血浆诊断
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Detection of fusion gene in cell-free DNA of a gastric synovial sarcoma 被引量:5
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作者 Shinpei Ogino Hirotaka Konishi +10 位作者 Daisuke Ichikawa Junichi Hamada Katsutoshi Shoda Tomohiro Arita Shuhei Komatsu Atsushi Shiozaki Kazuma Okamoto Sanae Yamazaki Satoru Yasukawa Eiichi Konishi Eigo Otsuji 《World Journal of Gastroenterology》 SCIE CAS 2018年第8期949-956,共8页
Synovial sarcoma(SS) is genetically characterized by chromosomal translocation, which generates SYT-SSX fusion transcripts. Although SS can occur in any body part, primary gastric SS is substantially rare. Here we des... Synovial sarcoma(SS) is genetically characterized by chromosomal translocation, which generates SYT-SSX fusion transcripts. Although SS can occur in any body part, primary gastric SS is substantially rare. Here we describe a detection of the fusion gene sequence of gastric SS in plasma cell-free DNA(cf DNA). A gastric submucosal tumor was detected in the stomach of a 27-year-old woman and diagnosed as SS. Candidate intronic primers were designed to detect the intronic fusion breakpoint and this fusion sequence was confirmed in intron 10 of SYT and intron 5 of SSX2 by genomic polymerase chain reaction(PCR) and direct sequencing. A locked nucleic acid(LNA) probe specificto the fusion sequence was designed for detecting the fusion sequence in plasma and the fusion sequence was detected in preoperative plasma cfD NA, while not detected in postoperative plasma cfD NA. This technique will be useful for monitoring translocation-derived diseases such as SS. 展开更多
关键词 FUSION GENE GASTRIC SYNOVIAL SARCOMA PLASMA cell free dna
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血浆无细胞线粒体外线粒体DNA与牙周炎临床指标的相关性研究
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作者 杨再目 曹沛 +1 位作者 刘振华 栾庆先 《国际口腔医学杂志》 CAS CSCD 北大核心 2024年第3期288-295,共8页
目的血浆无细胞线粒体外线粒体DNA(cf-exmtDNA)具有促炎潜能,本文探讨血浆cf-exmtDNA与牙周炎临床指标的相关性。方法纳入18~45岁受试者78人,其中牙周健康者11人,牙龈炎患者11人,牙周炎患者56人。检查并记录基线牙周指标、年龄、性别、... 目的血浆无细胞线粒体外线粒体DNA(cf-exmtDNA)具有促炎潜能,本文探讨血浆cf-exmtDNA与牙周炎临床指标的相关性。方法纳入18~45岁受试者78人,其中牙周健康者11人,牙龈炎患者11人,牙周炎患者56人。检查并记录基线牙周指标、年龄、性别、体质指数(BMI)和空腹血糖(FBG)。取4 mL抗凝静脉血,采用二次离心法提取其中cf-exmtDNA,使用实时荧光定量聚合酶链式反应检测cf-exmtDNA拷贝数。比较不同牙周炎症状态组血浆cf-exmtDNA水平,并对血浆cf-exmtDNA与平均探诊深度(mPD)、平均附着水平(mCAL)、平均出血指数(mBI)、平均菌斑指数(mPLI)、年龄、FBG、BMI等指标进行相关性分析以及多重线性回归分析。结果牙周炎组血浆cf-exmtDNA水平显著高于牙周健康组(P=0.042);样本整体血浆cf-exmtDNA水平与年龄(P=0.023)、mPD(P<0.001)、mCAL(P=0.006)、mBI(P=0.026)呈正相关关系;多重回归分析中,血浆cf-exmtDNA水平主要取决于mPD。结论在18~45岁人群中,牙周炎患者血浆cf-exmtDNA水平较牙周健康者显著升高,血浆cf-exmtDNA水平与年龄、mPD、mCAL、mBI呈正相关关系。 展开更多
关键词 牙周炎 无细胞dna 线粒体dna 横断面研究 牙周临床指标
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Quick recovery and characterization of cell-free DNA in seminal plasma of normozoospermia and azoospermia: implications for non-invasive genetic utilities 被引量:3
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作者 Hong-Gang Li Shi-Yun Huang Hui Zhou Ai-Hua Liao Cheng-Liang Xiong 《Asian Journal of Andrology》 SCIE CAS CSCD 2009年第6期703-709,共7页
We established a quick and reliable method for recovering cell-free seminal DNA (cfsDNA), by using the binding-washing-elution procedure on the DNA purification column. Low variations (below 15%) among the triplic... We established a quick and reliable method for recovering cell-free seminal DNA (cfsDNA), by using the binding-washing-elution procedure on the DNA purification column. Low variations (below 15%) among the triplicate values of cfsDNA quantity verified the reproducibility of our cfsDNA recovery method. Similar cfsDNA yield and size distribution between seminal plasma acquired by filtration and centrifugation confirmed the presence of cfsDNA. To investigate the general characterization of cfsDNA, the quantitation and size distribution of cfsDNA from normozoospermic and azoospermic semen were analyzed by real-time PCR and electrophoresis, respectively. CfsDNA concentration in semen with normozoospermia (n = 11) was 1.34 ± 0.65 μg ·mL^-1, whereas a higher cfsDNA concentration was observed in azoospermia (2.56 ± 1.43 μg ·mL^-1, n = 9). The continuous distribution of DNA fragments ranging from -1 kb to 15 kb and a spectrum of multiples of 180-bp fragments were observed in each normozoospermic and azoospermic sample. Distinct characteristic DNA ladder fragmentations in some azoospermic samples implicated that cfsDNA originate partly from apoptotic cells. CfsDNAs of 36 selected azoospermic patients with known information of Y chromosome microdeletion were subjected to the same microdeletion analysis by multiplex PCR and PCR amplification of sY114 (1 450 bp). All multiplex PCR reactions with cfsDNA amplified successfully and provided the same result as leukocyte DNA. PCR amplification of sY114 gave a 1 450-bp amplicon as expected. Our data suggested the potential use of cfsDNA in search of biomarker or diagnostic procedures. 展开更多
关键词 AZOOSPERMIA cell-free dna normozoospermia seminal plasma Y chromosome microdeletion
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基于甲基化特异性PCR的外周血循环游离DNA甲基化检测对乳腺癌诊断价值的荟萃分析
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作者 刘杰 朱启富 +4 位作者 张丹 余琦慧 郑欣 姚水洪 汪新华 《当代医学》 2024年第13期1-5,共5页
目的通过Meta分析系统评估基于甲基化特异性PCR(MSP)的外周血循环游离DNA(cfDNA)甲基化检测对乳腺癌的诊断价值。方法检索PubMed、Embase、Cochrane数据库,检索时间为2011年1月至2021年12月,以“Breast neoplasms”“Breast cancer”“M... 目的通过Meta分析系统评估基于甲基化特异性PCR(MSP)的外周血循环游离DNA(cfDNA)甲基化检测对乳腺癌的诊断价值。方法检索PubMed、Embase、Cochrane数据库,检索时间为2011年1月至2021年12月,以“Breast neoplasms”“Breast cancer”“Methylation”“Cell-free DNA”等为检索词,检索有关血液循环cfDNA甲基化用于乳腺癌诊断的文献,根据纳入及排除标准筛选文献。使用QUADAS-2对纳入文献进行质量评价,提取研究数据并使用Stata 16.0对各效应量进行合并,分析异质性及来源,以Deek’s法检验发表偏倚。结果共检索318篇文献,最终纳入12篇文献的27项研究进行Meta分析,患者2195例,纳入研究存在高度异质性(I^(2)>50.00%)。采用随机效应模型合并灵敏度为0.43[95%CI(0.31~0.56)],合并特异度为0.97[95%CI(0.94~0.99)],合并阳性似然比(LR+)为16.30[95%CI(7.00~37.80)],合并阴性似然比(LR-)为0.59[95%CI(0.47~0.73)],合并诊断比值比(DOR)为28.00[95%CI(11.00~70.00)],合并AUC为0.85[95%CI(0.82~0.88)]。结论基于MSP的外周血cfDNA甲基化检测对乳腺癌有较高的辅助诊断价值。 展开更多
关键词 循环游离dna 甲基化 乳腺癌 甲基化特异性PCR 荟萃分析
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Value of dynamic plasma cell-free DNA monitoring in septic shock syndrome: A case report 被引量:2
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作者 Jing-Ping Liu Shi-Chang Zhang Shi-Yang Pan 《World Journal of Clinical Cases》 SCIE 2020年第1期200-207,共8页
BACKGROUND Mortality due to septic shock is relatively high.The dynamic monitoring of plasma cell-free DNA(cfDNA)can guide the treatment of septic shock.CASE SUMMARY Herein,we present a typical case of septic shock sy... BACKGROUND Mortality due to septic shock is relatively high.The dynamic monitoring of plasma cell-free DNA(cfDNA)can guide the treatment of septic shock.CASE SUMMARY Herein,we present a typical case of septic shock syndrome caused by the bacilli Acinetobacter baumannii and Pantoea.The patient complained of abdominal pain,fever and chills upon admission to the Emergency Department.Marked decreases in white blood cells and procalcitonin(PCT)were observed after the patient received continuous renal replacement and extracorporeal membrane oxygenation.Plasma cfDNA levels were consistently high,peaking at 1366.40 ng/mL,as measured by a duplex real-time PCR assay with an internal control,which was developed as a novel method for the accurate quantification of cfDNA.The patient died of septic shock on HD 8,suggesting that cfDNA could be used to monitor disease progression more effectively than PCT and the other inflammatory factors measured in this case.CONCLUSION CfDNA may be a promising marker that complements other inflammatory factors to monitor disease progression in patients with septic shock. 展开更多
关键词 Septic shock Acinetobacter baumannii cell-free dna Case report
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游离DNA最新研究进展及法医学应用展望
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作者 胡文静 杨婷婷 +1 位作者 王雅雅 严江伟 《法医学杂志》 CAS CSCD 北大核心 2024年第1期70-76,共7页
近年来,随着DNA提取和检测技术的不断进步,游离DNA(cell-free DNA,cfDNA)已经在生命科学领域得到了广泛应用,在法医学鉴定领域中的潜在应用价值也越来越明显。本文回顾了cfDNA概念、形成机制与分类等,并阐述了cfDNA在法医学现场接触检... 近年来,随着DNA提取和检测技术的不断进步,游离DNA(cell-free DNA,cfDNA)已经在生命科学领域得到了广泛应用,在法医学鉴定领域中的潜在应用价值也越来越明显。本文回顾了cfDNA概念、形成机制与分类等,并阐述了cfDNA在法医学现场接触检材的个体识别和无创产前亲缘关系鉴定应用中的最新研究进展,同时总结了cfDNA在损伤推断中的应用潜力,并探讨了常用cfDNA分析方法和技术的优缺点及应用展望,为cfDNA在法医学领域的广泛应用提供新思路。 展开更多
关键词 法医遗传学 游离dna 接触检材 无创产前亲子鉴定 个体识别 亲缘关系 综述
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游离DNA甲基化在非肿瘤性疾病中的应用研究进展
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作者 魏丽荣(综述) 杜玉珍(审校) 《国际检验医学杂志》 CAS 2024年第5期635-640,共6页
游离DNA已成为新兴的、非侵入性的重要临床样本类型,游离DNA甲基化具有组织特异性,可以反映来源细胞的DNA甲基化状态,在临床疾病诊疗中可能成为重要的潜在标志物。该文旨在综述近年常用的游离DNA甲基化检测技术,以及游离DNA甲基化在神... 游离DNA已成为新兴的、非侵入性的重要临床样本类型,游离DNA甲基化具有组织特异性,可以反映来源细胞的DNA甲基化状态,在临床疾病诊疗中可能成为重要的潜在标志物。该文旨在综述近年常用的游离DNA甲基化检测技术,以及游离DNA甲基化在神经退行性疾病、精神性疾病、心血管疾病、糖尿病和出生缺陷等非肿瘤疾病中的应用研究进展。 展开更多
关键词 游离dna 甲基化 液态活检 非肿瘤性疾病
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尿游离DNA的液体活检有望成为泌尿系疾病诊治的重要方向
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作者 刘雨婷 李伟霞 +2 位作者 谢梦晨 郭洋洋 王昕 《现代泌尿外科杂志》 CAS 2024年第4期379-382,共4页
尿液由泌尿系统直接产生,其中的游离DNA(cfDNA)携带了来源于泌尿系的基因组DNA,并且尿液样本具有非侵入性、数量不受限及获取方便等优点,因此尿cfDNA是诊治泌尿系疾病的一种很有潜力的生物标志物,对尿cfDNA进行液体活检在泌尿系疾病的... 尿液由泌尿系统直接产生,其中的游离DNA(cfDNA)携带了来源于泌尿系的基因组DNA,并且尿液样本具有非侵入性、数量不受限及获取方便等优点,因此尿cfDNA是诊治泌尿系疾病的一种很有潜力的生物标志物,对尿cfDNA进行液体活检在泌尿系疾病的诊治中具有重要的临床应用价值。本文就尿cfDNA在泌尿系疾病临床诊治中的应用研究作一综述。 展开更多
关键词 尿液 游离dna 泌尿系疾病 生物标志物 液体活检
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磁共振动态增强结合血循环肿瘤细胞、循环游离DNA对乳腺癌的临床诊断研究
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作者 张倩 俱京涛 +1 位作者 张雅琼 张春谦 《安徽医药》 CAS 2024年第4期732-736,I0003,共6页
目的探讨磁共振动态增强(DCE-MRI)结合血循环肿瘤细胞(CTCs)、循环游离DNA(cfDNA)对乳腺癌的诊断价值。方法选取沧州市人民医院2020年6月至2021年11月符合纳入标准的乳腺癌病人82例(乳腺癌组)。另选同期65例乳腺良性病变且未合并其他疾... 目的探讨磁共振动态增强(DCE-MRI)结合血循环肿瘤细胞(CTCs)、循环游离DNA(cfDNA)对乳腺癌的诊断价值。方法选取沧州市人民医院2020年6月至2021年11月符合纳入标准的乳腺癌病人82例(乳腺癌组)。另选同期65例乳腺良性病变且未合并其他疾病者作为良性组。比较两组DCE-MRI定量参数、CTCs、cfDNA水平,对比MRI特征,分析DCE-MRI结合CTCs、cfDNA诊断乳腺癌的价值。结果乳腺癌组DCE-MRI定量参数速度常数(K^(trans))值、速率常数(K_(ep))值、Alu247/115水平及CTCs计数分别为(0.18±0.04)min、(1.32±0.27)min、(12.97±2.14)个/毫升、0.97±0.32,比良性组高(0.05±0.01)min、(0.51±0.11)min、(10.15±1.45)个/毫升、0.55±0.12(P<0.05)。良性组边缘多光滑,形状规则,内部强化以均匀为主,时间-信号强度曲线(TIC)以Ⅰ型多见,早期增强率<60%;乳腺癌组边缘毛刺征、形状不规则,内部不均匀强化为主,以TIC分型Ⅲ型多见,早期增强率<60%占比高。两组MRI形态表现比较差异有统计学意义(P<0.05)。淋巴结转移、Ⅲ~Ⅳ期者CTCs数量、Alu247/115水平明显高于无淋巴结转移、Ⅰ~Ⅱ期者(P<0.05)。受试者操作特征(ROC)曲线分析结果显示,三者联合(DCE-MRI+CTCs+cfDNA)诊断乳腺癌的曲线下面积(AUC)、灵敏度、特异度分别为0.86、0.93、0.84,诊断效果优于单一检测CTCs、cfDNA检测(P<0.05)。结论乳腺癌病人CTCs、cfDNA存在异常表达,可能与病人临床分期、淋巴结转移有关,相对单一实验室检测,DCE-MRI结合CTCs、cfDNA检测能获取更多可靠信息。 展开更多
关键词 乳腺肿瘤 肿瘤细胞 循环 磁共振成像 循环游离dna 诊断价值
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结核分枝杆菌游离DNA检测在肺外结核诊断中的价值
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作者 陈小娟 向尹 +2 位作者 陈俊良 陈丽龙 税玉 《检验医学与临床》 2024年第3期299-303,共5页
目的探讨结核分枝杆菌(MTB)游离DNA(cfDNA)检测技术在肺外结核诊断中的应用价值。方法选取2021年7月至2022年12月该院收治的高度疑似肺外结核患者266例作为研究对象,根据临床诊断结果,分为肺外结核组117例和非结核组149例。所有患者均... 目的探讨结核分枝杆菌(MTB)游离DNA(cfDNA)检测技术在肺外结核诊断中的应用价值。方法选取2021年7月至2022年12月该院收治的高度疑似肺外结核患者266例作为研究对象,根据临床诊断结果,分为肺外结核组117例和非结核组149例。所有患者均采集脑脊液、胸腔积液、尿液及血液标本,并同时进行MTB cfDNA检测、结核分枝杆菌及利福平耐药快速检测(GeneXpert MTB/RIF)、涂片抗酸染色及血液标本结核感染T细胞γ干扰素释放试验(TB-IGRA)。通过分析4种检测方法的效能指标评估MTB cfDNA检测技术在肺外结核病诊断中的临床价值。结果MTB cfDNA检测法对脑脊液、胸腔积液、尿液中MTB的检出率均显著高于涂片抗酸染色(χ^(2)=5.714、9.289、9.226,P=0.017、0.002、0.002)。虽然MTB cfDNA检测法对脑脊液、尿液中MTB的检出率高于GeneXpert MTB/RIF,但差异无统计学意义(χ^(2)=0.143,P=0.705;χ^(2)=0.648,P=0.421);MTB cfDNA检测法对胸腔积液中MTB的检出率显著高于GeneXpert MTB/RIF(χ^(2)=4.222,P=0.040)。在肺外结核组,MTB cfDNA检测法的MTB检出率为26.50%(31/117),显著高于GeneXpert MTB/RIF[15.38%(18/117)]和涂片抗酸染色[3.42%(4/117)],差异均有统计学意义(χ^(2)=4.362,P=0.037;χ^(2)=24.492,P<0.05);而TB-IGRA的MTB检出率为72.65%(85/117),显著高于MTB cfDNA检测(χ^(2)=49.850,P<0.001)。MTB cfDNA检测法的灵敏度、特异度、阳性预测值、阴性预测值分别为26.50%、100.00%、100.00%、63.40%,其灵敏度显著高于GeneXpert MTB/RIF(15.38%)和涂片抗酸染色(3.42%),但低于TB-IGRA(72.65%),差异均有统计学意义(P<0.05)。结论MTB cfDNA检测在肺外结核诊断中具有较高的灵敏度及特异度,故MTB cfDNA检测在肺外结核诊断中具有较好的应用前景。 展开更多
关键词 结核分枝杆菌 结核分枝杆菌游离脱氧核糖核酸 结核分枝杆菌及利福平耐药快速检测 结核感染T细胞γ干扰素释放试验 肺外结核
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母体循环中胎儿游离DNA在单基因病产前诊断的研究进展
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作者 何素娜 周俏苗 《医学综述》 CAS 2024年第18期2288-2292,2299,共6页
单基因病是引起胎儿出生缺陷的主要原因之一,其种类多,病情复杂,缺乏有效治疗方法,且预后差。目前,无创产前检测(NIPT)已成为筛查胎儿非整倍体的主要手段,在临床上广泛应用。基于母体循环中胎儿游离DNA(cffDNA)的发现及高通量测序技术... 单基因病是引起胎儿出生缺陷的主要原因之一,其种类多,病情复杂,缺乏有效治疗方法,且预后差。目前,无创产前检测(NIPT)已成为筛查胎儿非整倍体的主要手段,在临床上广泛应用。基于母体循环中胎儿游离DNA(cffDNA)的发现及高通量测序技术的发展,单基因病的NIPT成为研究热点,且检测技术及其检测的疾病种类也在不断增加,但是单基因病的检测存在难度大、成本高等问题。目前胎儿单基因病的NIPT仍然处于研究阶段,尚未在临床应用。因此,深入研究母体循环中cffDNA的NIPT对单基因病产前诊断具有重要意义。 展开更多
关键词 单基因病 胎儿游离dna 无创产前检测 产前诊断
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Multiple z-Score Based Method for Noninvasive Prenatal Test Using Cell-Free DNA in Maternal Plasma
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作者 Hyuk Jung Kwon Amit Goyal +14 位作者 Heesu Im Kichan Lee Seon Young Yun Yoon Hee Kim Sungjong Lee Mi-Gyeong Lee Hyuna Lee Reena Garg Boram Park Soyoung Choi Joungsu Joo Jin-Sik Bae Min-Jeong Kim Min Seob Lee Sunghoon Lee 《Open Journal of Genetics》 2017年第1期1-8,共8页
Objective: To improve the detecting accuracy of chromosomal aneuploidy of fetus by non-invasive prenatal testing (NIPT) using next generation sequencing data of pregnant women’s cell-free DNA. Methods: We proposed th... Objective: To improve the detecting accuracy of chromosomal aneuploidy of fetus by non-invasive prenatal testing (NIPT) using next generation sequencing data of pregnant women’s cell-free DNA. Methods: We proposed the multi-Z method which uses 21 z-scores for each autosomal chromosome to detect aneuploidy of the chromosome, while the conventional NIPT method uses only one z-score. To do this, mapped read numbers of a certain chromosome were normalized by those of the other 21 chromosomes. Average and standard deviation (SD), which are used for calculating z-score of each sample, were obtained with normalized values between all autosomal chromosomes of control samples. In this way, multiple z-scores can be calculated for 21 autosomal chromosomes except oneself. Results: Multi-Z method showed 100% sensitivity and specificity for 187 samples sequenced to 3 M reads while the conventional NIPT method showed 95.1% specificity. Similarly, for 216 samples sequenced to 1 M reads, Multi-Z method showed 100% sensitivity and 95.6% specificity and the conventional NIPT method showed a result of 75.1% specificity. Conclusion: Multi-Z method showed higher accuracy and robust results than the conventional method even at low coverage reads. 展开更多
关键词 cell-free dna Z-SCORE MULTIPLE Thresholds COEFFICIENT of Variance NONINVASIVE PRENATAL Testing NIPT
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血浆游离胎儿DNA浓度联合血清妊娠相关血浆蛋白-A、β-人绒毛膜促性腺激素检测对孕妇不良妊娠结局的预测价值
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作者 劳力 梁娇 +2 位作者 蒙浣婷 艾文 杨仪心 《中国性科学》 2024年第3期91-95,共5页
目的探讨血浆游离胎儿DNA(cff-DNA)浓度联合血清妊娠相关血浆蛋白-A(PAPP-A)和β-人绒毛膜促性腺激素(β-hCG)检测对孕妇不良妊娠结局的预测价值。方法选取2022年8月至2023年2月佛山复星禅诚医院收治的进行产检、唐氏筛查和无创产前DNA... 目的探讨血浆游离胎儿DNA(cff-DNA)浓度联合血清妊娠相关血浆蛋白-A(PAPP-A)和β-人绒毛膜促性腺激素(β-hCG)检测对孕妇不良妊娠结局的预测价值。方法选取2022年8月至2023年2月佛山复星禅诚医院收治的进行产检、唐氏筛查和无创产前DNA检查(NIPT)的195例孕妇作为研究对象。将发生不良妊娠结局的孕妇设为研究组(n=36),无不良妊娠结局的孕妇设为对照组(n=159)。检测两组血浆cff-DNA浓度、血清PAPP-A和β-hCG水平;采用Spearman分析血浆cff-DNA浓度、血清PAPP-A和β-hCG水平与不良妊娠结局的相关性;采用受试者工作特征(ROC)曲线分析血浆cff-DNA浓度、血清PAPP-A和β-hCG水平对不良妊娠结局的预测价值。结果与对照组比较,研究组血浆cff-DNA浓度和血清PAPP-A水平显著更低,血清β-hCG水平显著更高,差异具有统计学意义(P<0.05);Spearman分析结果显示,血浆cff-DNA浓度、血清PAPP-A和β-hCG水平与妊娠期高血压、子痫前期、早产、死胎、新生儿窒息和胎儿生长受限不良妊娠结局具有显著相关性(P<0.05);ROC曲线结果显示,血浆cff-DNA浓度单独预测孕妇不良妊娠结局的曲线下面积为0.807,截断值为11.82%;血清PAPP-A单独预测孕妇不良妊娠结局的曲线下面积为0.804,截断值为0.41;血清β-hCG单独预测孕妇不良妊娠结局的曲线下面积为0.815,截断值为2.56;预测效能比较结果显示,血浆cff-DNA浓度、血清PAPP-A和β-hCG水平联合预测孕妇不良妊娠结局的特异度(97.48%)和准确度(96.41%)均显著高于三者单独预测(P<0.05),误诊率(2.52%)显著低于三者单独预测(P<0.05)。结论血浆cff-DNA浓度联合血清PAPP-A、β-hCG检测对孕妇不良妊娠结局具有较高的预测价值。 展开更多
关键词 血浆游离胎儿dna浓度 妊娠相关血浆蛋白-A Β-人绒毛膜促性腺激素 不良妊娠结局 预测价值
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The Prognostic Value of Cell-Free DNA in Advanced Non-Small-Cell Lung Cancer
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作者 Anneli Dowler Nygaard Karen-Lise Garm Spindler +2 位作者 Niels Pallisgaard Rikke Fredslund Andersen Anders Jakobsen 《Journal of Cancer Therapy》 2013年第8期1-7,共7页
Background: Cell-free DNA (cfDNA) holds promise as a tumor marker of clinical importance. We aimed to investigate the prognostic value of baseline cfDNA in non small-cell lung cancer (NSCLC). Material and Methods: Dur... Background: Cell-free DNA (cfDNA) holds promise as a tumor marker of clinical importance. We aimed to investigate the prognostic value of baseline cfDNA in non small-cell lung cancer (NSCLC). Material and Methods: During a three-year period, patients with newly diagnosed, previously untreated advanced NSCLC were included in a consecutive, prospective marker-trial. Plasma was isolated from a pre-treatment peripheral blood sample and the level of total cfDNA was measured by an in-house assay qPCR-method. The treatment comprised carboplatin (AUC 5) intravenously day 1), and vinorelbine (30 mg/m2 intravenously day 1 and 60 mg/m2 perorally day 8) q3w for a maximum of six cycles. The primary end-point was overall survival (OS). Secondary end-points were progression free survival (PFS) and overall response rate (ORR). Results: 245 patients were included and received a minimum of 1 cycle of chemotherapy (median 4). The median OS was 8.9 months, the median PFS by intention to treat 5.4 months and the ORR was 25%. The patients were divided into four groups based on quartiles of cfDNA and subsequently dichotomized by the 75th percentile revealing a significantly worse prognosis for patients in the upper 75th percentile (median OS 4.9 months) compared to patients with lower levels (10.0 months) (HR 2.1, 95%CI 1.4 - 3.1, p 0.0001). A multivariate analysis confirmed the independent prognostic value of cfDNA. A subgroup analysis of patients with high cfDNA and poor performance status (PS = 2) identified a group of patients with even worse prognosis (median OS 2.0 versus 9.1 months, HR 3.6, 95%CI 1.4 - 9.2, p 0.0001). Similar and significant results were found when comparing level of cfDNA and PFS. Conclusions: High pre-treatment level of cfDNA seems to have a strong prognostic impact in patients with newly diagnosed advanced NSCLC. Combined with PS it identifies a patient group with minimal or no benefit of chemotherapy. 展开更多
关键词 cell-free dna PROGNOSTIC NSCLC CIRCULATING dna
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Non-invasive Prenatal Gene Diagnosis: Progress through Cell-free Fetal DNA and RNA in Maternal Plasma and Urine
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作者 GUO Xun-yang, GUO Yi-bin ( Department of Medical Genetics, Zhongshan School of Medicine, SUN Yat-Sen University, Guangzhou 510080, China ) 《中山大学学报(医学科学版)》 CAS CSCD 北大核心 2008年第S2期140-142,共3页
Non-invasive prenatal gene diagnosis has been developed rapidly in the recent years, and numerous medical researchers are focusing on it. Such techniques could not only achieve prenatal diagnosis accurately, but also ... Non-invasive prenatal gene diagnosis has been developed rapidly in the recent years, and numerous medical researchers are focusing on it. Such techniques could not only achieve prenatal diagnosis accurately, but also prevent tangential illness in fetuses and thus, reduce the incidence of diseases. Moreover, it is non-invasive prenatal gene diagnosis that prevents potential threaten and danger to both mothers and fetuses. Therefore, it is welcomed by clinical gynecologist and obstetrian, researchers of medical genetics, and especially, pregnancies. This review article touches briefly on the advanced development of using cell-free DNA, RNA in maternal plasma and urine for non-invasive prenatal gene diagnosis. 展开更多
关键词 NON-INVASIVE prenatal gene diagnosis cell-free fetal dna and RNA dna and RNA detection MATERNAL URINE MATERNAL plasma
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Vangenes Cell-Free DNA采血管与 Streck Cell-Free DNA采血管在无创产前检测应用中的效果比较
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作者 段利朋 祝兴强 +3 位作者 徐欢 李维 郑海灵 陈洪亮 《医学检验与临床》 2018年第12期12-16,共5页
目的:比较Vangenes■Cell-Free DNA采血管和Streck■Cell-Free DNA 采血管对血液样品的运输保存效果.方法:通过静脉抽血, 18名志愿者分别使用Vangenes■Cell-Free DNA 采血管与Streck■Cell-Free DNA采血管各采集一管10mL血液.经过约50... 目的:比较Vangenes■Cell-Free DNA采血管和Streck■Cell-Free DNA 采血管对血液样品的运输保存效果.方法:通过静脉抽血, 18名志愿者分别使用Vangenes■Cell-Free DNA 采血管与Streck■Cell-Free DNA采血管各采集一管10mL血液.经过约50h运输样本回到实验室,进行血浆分离、游离DNA提取、构建文库、上机测序并进行建库浓度、测序数据的unique read counts、 GC%以及duplication值等分析.结果:经比较, Vangenes ?Cell-Free DNA采血管保存样品在血浆颜色、建库浓度以及测序数据的unique read counts、 GC%以及duplication值等达到了Streck■Cell-Free DNA 采血管保存样品相似的结果,二者不存在显著性差异.结论:在血液样品运输保存过程中, Vangenes■Cell-Free DNA采血管可有效阻止有核细胞破裂导致的基因组DNA对于游离DNA的污染,对于利用胎儿游离DNA进行的无创产前检测技术具有重要意义. 展开更多
关键词 移离dna cell-free dna采血管 无创产前检测
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