Copy number variation sequencing for diagnosis of cytomegalovirus infection based low-depth whole-genome sequencing technology in fetus:Three cases and literature review

Objective:To summarize the application value of copy number variant sequencing(CNV-seq)in the detection of fetal chromosome and cytomegalovirus load.Methods:The study analyzed the clinical basic data,relevant laboratory tests,treatment process,and outcomes of three patients with positive cytomegalovirus load detected by CNV-seq for fetal chromosomes and cytomegalovirus load,and literature review was done simutaneoubly.Results:In all three cases,the amniotic fluid cytomegalovirus load was less than 105 Copies/ml,and there were no significant neurological abnormalities observed during pregnancy or postpartum follow-up.There is no literature review on the application of CNV-seq technology in the detection of cytomegalovirus infection,only literature reports on genome analysis of CMV-DNA in confirmed patients were available.Conclusion:CNV-seq can be used to detect cytomegalovirus load,which may have a certain degree of predictive value for fetal outcome.CNV-seq can simultaneously detect fetal chromosomes and pathogenic microorganisms,which is of great significance for the prevention and control of birth defects.

不同产地细辛中挥发油GC-MS指纹图谱的建立及其化学模式识别研究

目的 建立不同产地细辛药材挥发油的气相色谱-质谱联用(GC-MS)指纹图谱,并结合化学模式识别进行评价。方法 采用GC-MS法建立细辛挥发油的指纹图谱,进行相似度评价,并通过聚类分析(CA)、主成分分析(PCA)、正交偏最小二乘法(OPLS-DA)判别分析不同产地细辛挥发油的质量差异。结果 建立了细辛挥发油的GC-MS指纹图谱,确认24个共有峰,并指认了其中10个共有峰。不同批次细辛挥发油样品相似度在0.908以上。CA、PCA和OPLS-DA结果显示细辛挥发油存在一定的质量差异,以变量投影重要度(VIP)值>1.0为标准,筛选出8个差异性标志成分。结论 GC-MS指纹图谱结合化学模式识别可以全面、系统地评价细辛挥发油的质量特征,为细辛药材的质量评价提供参考。

基于16S rDNA测序研究化瘀通阳方对溃疡性结肠炎大鼠肠道菌群的影响

目的:通过观察化瘀通阳方对溃疡性结肠炎(UC)大鼠肠道菌群的影响,为其发挥治疗UC的作用提供理论依据。方法:采用DSS诱导UC大鼠模型,造模成功后,实验组予0.54g/mL的化瘀通阳方汤剂2mL进行灌肠治疗,对照组和模型组用等量的0.9%氯化钠溶液灌肠。治疗结束后采集大鼠粪便,提取肠道菌群DNA,于Illumina HiSeq测序平台进行16S rDNA V4区测序分析。结果:菌群测序结果显示UC大鼠肠道菌群多样性降低,经化瘀通阳方治疗后,菌群多样性提高,但实验组与模型组间差异无统计学意义;菌群组成分析提示模型组中致病菌属占主要地位,实验组有益菌丰度升高。结论:化瘀通阳方可通过调节并恢复肠道菌群的多样性,增加肠道有益菌,抑制致病菌而发挥治疗UC的作用。