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
目的探讨脓毒症患者血浆游离DNA(cf-DNA)定量检测的临床应用价值。方法选取2012年11月至2013年5月,收治于包钢医院呼吸与危重症医学科的35例脓毒症患者和31例全身炎症反应综合征(SIRS)患者,并以17例健康者血浆作为对照样本;用"血...目的探讨脓毒症患者血浆游离DNA(cf-DNA)定量检测的临床应用价值。方法选取2012年11月至2013年5月,收治于包钢医院呼吸与危重症医学科的35例脓毒症患者和31例全身炎症反应综合征(SIRS)患者,并以17例健康者血浆作为对照样本;用"血浆游离DNA提取试剂盒"提取血浆cf-DNA,采用荧光定量PCR技术(SYBR Green I染料法)检测血浆DNA水平,酶联免疫吸附测定法检测血清降钙素原(PCT)和C-反应蛋白(CRP)水平,并应用ROC曲线分析比较cf-DNA、PCT及CRP在脓毒症诊断中的价值。结果脓毒症组cf-DNA明显高于SIRS组和健康对照组,差异有显著性(P<0.001);入院第1天cf-DNA浓度显著高于第3天,差异有显著性(P<0.001);入院第1天的cf-DNA浓度与SOFA评分具有相关性,SOFA评分越高,其cf-DNA越高,且差异有统计学意义(r=0.561,P<0.001);以血浆cf-DNA浓度≥8 939 GE/ml作为诊断脓毒症的临界值,其检测的灵敏度为77.14%,特异度为80.65%。结论血浆游离DNA的定量检测可作为脓毒症的早期预测、随访观察疗效和监测复发的指标。展开更多
文摘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.
文摘目的探讨脓毒症患者血浆游离DNA(cf-DNA)定量检测的临床应用价值。方法选取2012年11月至2013年5月,收治于包钢医院呼吸与危重症医学科的35例脓毒症患者和31例全身炎症反应综合征(SIRS)患者,并以17例健康者血浆作为对照样本;用"血浆游离DNA提取试剂盒"提取血浆cf-DNA,采用荧光定量PCR技术(SYBR Green I染料法)检测血浆DNA水平,酶联免疫吸附测定法检测血清降钙素原(PCT)和C-反应蛋白(CRP)水平,并应用ROC曲线分析比较cf-DNA、PCT及CRP在脓毒症诊断中的价值。结果脓毒症组cf-DNA明显高于SIRS组和健康对照组,差异有显著性(P<0.001);入院第1天cf-DNA浓度显著高于第3天,差异有显著性(P<0.001);入院第1天的cf-DNA浓度与SOFA评分具有相关性,SOFA评分越高,其cf-DNA越高,且差异有统计学意义(r=0.561,P<0.001);以血浆cf-DNA浓度≥8 939 GE/ml作为诊断脓毒症的临界值,其检测的灵敏度为77.14%,特异度为80.65%。结论血浆游离DNA的定量检测可作为脓毒症的早期预测、随访观察疗效和监测复发的指标。
