DNA微阵列芯片法在海南地区结核病诊断及耐药性检测中的应用

目的 探讨DNA微阵列芯片法在海南地区结核病诊断及耐药性检测中的应用.方法 采用抗酸杆菌涂片法、罗氏培养法、比例法药敏试验及DNA微阵列芯片法对海南地区的2069例疑似结核病患者痰标本进行检测,并对结核分枝杆菌检出率、耐药性及耐药基因突变特征进行分析.结果 DNA微阵列芯片法检测结核分枝杆菌检出率为明显高于罗氏培养法和...     

间隙连接蛋白43突变与皮肤疾病相关性研究

间隙连接蛋白(Cx)在保证细胞间物质信息传递及维持皮肤屏障稳态方面发挥着重要作用,其基因突变,甚至表达水平异常均会引起多种疾病,严重影响患者生活质量。在编码人类Cx家族的21个基因中,与Cx基因突变相关的临床伴随疾病至少有14种。其中,Cx43分布最广,不仅在大多数器官组织中均有报道,也是伤口愈合、皮肤角质化,以及皮肤肿瘤发展等重要生理病理过程中的关键调控节点。本文总结了近年来Cx43基因(GJA1)在皮肤屏障中的作用、GJA1基因突变相关皮肤疾病及其潜在致病机制这几个快速发展领域中的研究成果,以期为Cx43临床伴发疾病防治及相关研究提供参考。     

Case Report of Small Cell Carcinoma of the Ovary,Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman with SCCOHT harboring a rare molecular finding with a highly aggressive biological behavior. The patient had a somatic SMARCB1 mutation instead of an expected SMARCA4 alteration. Even though the patient was treated with high-dose chemotherapy followed by stem cell transplantation, she evolved with disease progression and died 11 months after her first symptoms appeared. We present a literature review of this rare disease and discuss the findings in the present patient in comparison to expected molecular alterations and options for SCCOHT treatment.     

SARS-CoV-2辅助蛋白ORF8的功能及研究进展

新型冠状病毒（SARS-CoV-2）与2002年开始流行的冠状病毒（SARS-CoV）基因组相似,编码多种病毒蛋白。其中辅助蛋白ORF8与SARS-CoV ORF8有较低的序列同源性,且有快速进化和突变的特征,具有抑制Ⅰ型干扰素、下调主要组织相容性复合体Ⅰ（MHCⅠ）表达等功能。该文就SARS-CoV-2辅助蛋白ORF8的结构、功能及对COVID-19的诊断治疗前景进行综述。     

Novel LG1 Mutations in Agrin Causing Congenital Myasthenia Syndrome

The patient had suffered from both proximal and distal limb weakness since her early childhood, without the involvement of ocular or respiratory muscles. Repetitive nerve stimulation (RNS) at 3 Hz showed significant decrement in the area and amplitude of the compound muscle action potential (CMAP) on the right abductor digiti minimi (26%) and trapezius (17%). Whole-exon sequencing revealed two novel heterozygous mutations (p.Q1406Rfs*29 and p.R1521H) in the LG1 domain of agrin, which were deemed likely pathogenic for congenital myasthenic syndromes (CMS) according to a bioinformatics analysis. The patient showed remarkable improvement after treatment with salbutamol. This case expanded the mutation spectrum of AGRN.     

Complexity and Distribution of Drivers in Relation to Duration of Persistent Atrial Fibrillation

Background

The underlying mechanisms sustaining human persistent atrial fibrillation (PsAF) is poorly understood.

脑胶质瘤组织中R132H突变型hIDH1基因双顺反子真核表达载体的构建及鉴定

目的以pcDNA3.1(+)为骨架,构建并鉴定人脑胶质瘤组织中含R132H突变的人源异柠檬酸脱氢酶1基因(hIDH1R132H)和增强型绿色荧光蛋白(EGFP)序列的双顺反子真核表达载体。方法以内部核糖体进入位点(IRES)/EGFP片段为模板,扩增出IRES/EGFP片段,并在5’末端引入3×Flag标签;通过PCR介导的定点突变法,以pCMV-sports6-hIDH1为模板,扩增hIDH1R132H基因片段,并在3’末端引入3×Flag标签;通过PCR连接两种产物后经双酶切定向克隆入pcDNA3.1(+)骨架;转化大肠杆菌后挑取阳性克隆,提取质粒进行PCR检测及基因序列测定。结果 PCR检测7个菌落中有6个阳性克隆,DNA测序发现引入了hIDH1基因。结论成功构建了双顺反子真核表达载体pcDNA3.1(+)-hIDH1R132H/3×Flag/IRES/EGFP,为研究人胶质瘤组织中R132H突变的作用机制奠定了基础。     

β3肾上腺素能受体基因Trp64Arg多态性与蒙古族原发性高血压病相关性分析

目的检测蒙古族原发性高血压人群中β3肾上腺素能受体基因Trp64Arg多态性,探讨其与蒙古族人群原发性高血压病(EH)和其他心血管病危险因素的关系。方法应用PCR技术检测原发性高血压病患者102例,健康体检者93例。比较两组Trp64Arg突变基因型和临床特征。结果高血压病组与对照组β3-AR基因突变频率两者差异无统计学意义(P>0.05),基因Trp64Arg突变者的体质量指数显著高于正常基因型(P<0.05),突变者在三酰甘油、血糖、胰岛素、尿酸方面差异有统计学意义(P<0.05)。结论 Trp64Arg基因突变可能不是蒙古族原发性高血压病发生的决定因素,但该基因变异可能与肥胖、脂代谢、糖代谢等危险因素有关。     

CYP2C19基因多态性与介入治疗后氯吡格雷药物疗效的相关性研究

目的探讨PCI术后CYP2C19基因多态性与不同剂量氯吡格雷药物效果的相关性。方法通过基因芯片检测技术,筛选PCI术后CYP2C19基因突变为CYP2C19*2/*2、CYP2C19*2/*3或CYP2C19*3/*3的患者67例,随机分为常规组22例、2倍组22例和3倍组23例。常规组75 mg氯吡格雷、2倍组150 mg氯吡格雷、3倍组225 mg氯吡格雷,1次/d。分别于PCI术后1、3、6个月通过血栓弹力图检测各组氯吡格雷药物抑制率及再发心血管缺血事件发生率。结果 PCI术后6个月内,2倍组和3倍组患者心血管缺血事件发生率较常规组明显降低(81.8%vs 31.8%vs 21.7%,P<0.01),2倍组与3倍组比较差异无统计学意义(P>0.05)。术后1、3、6个月2倍组和3倍组氯吡格雷药物抑制率较常规组显著升高(P<0.01),2倍组与3倍组比较差异无统计学意义(P>0.05)。3组出血风险比较差异无统计学意义(P>0.05)。结论 CYP2C19基因变异患者增加氯吡格雷药物服用剂量,可在一定程度上提高血小板的抑制,降低心血管缺血事件发生率,且不增加出血事件的发生率。