目的 了解不同类型神经母细胞瘤的生物学特性。方法 在本研究中,对新诊断神经母细胞瘤患者的生物学特点(N-myc基因扩增)与临床特点进行了比较。结果 共49例神经母细胞瘤,起源于腹膜后35例,其他14例。两个组呈现出不同的N-myc基因扩增情况(P<0.05)。结论 不同临床类型的神经母细胞瘤存在有不同的生物学特性发布情况。

Objective To investigate the biological characteristics of neuroblastomas originating from different sites. Methods Fluorescent in situ hybridization (FISH) was employed to detect the status of N-myc amplification in patients with newly diagnosed neuroblastoma originating from different sites from July 2011 to June 2013. Results A total of 49 cases of patients with newly diagnosed neuroblastoma were identified in the study, 35 cases of neuroblastoma originating from retroperitoneal site, 14 cases from other primary sites. There were significant differences in the N-myc amplification between the two groups(P<0.05). Conclusion Patients with neuroblastomas originating from extra-retroperitoneal sites might show a more favorable biological characteristics than from retroperitoneal site.

目的 探讨心肌细胞RyR2和L型钙通道的基因变异与室性心律失常和心源性猝死的相关性。方法 回顾分析2010年1月—2012年12月在我院就诊的慢性心力衰竭患者622例的临床资料,并选取同一时期体检中心体检的健康人群516例作为对照组,门诊或者电话随访记录慢性心力衰竭患者的死亡为终点,通过候选基因分析可能具有相关功能的4个基因变异,rs41315858(G1885E)、rs3766871(G1886S)、rs790896(G>A)和rs723672(T>C),采用Logestic、Cox回归分析对4个候选基因变异进行相关性研究。结果 入选622例慢性心力衰竭患者和516例对照组,基因分析结果显示RyR2上的基因变异rs376687lA等位基因携带可以增加慢性心力衰竭患者发生室性心律失常的风险性;校正可能与该疾病相关的危险因素后,rs376687lA等位基因携带会增加心源性死亡和心源性猝死的风险,RyR2上的基因变异rs790896A等位基因携带可以降低心源性猝死风险。结论 RyR2上的基因变异rs376687lA是室性心律失常和心源性猝死的遗传学预测因子,而rs790896A等位基因是慢性心力衰竭患者的保护因子,可降低室性心律失常和心源性猝死的风险。

Objective To investigate the myocardial cells RyR2 and L-type calcium channel gene variants with ventricular arrhythmias and sudden cardiac death correlation. Methods Retrospective analysis of patients with chronic heart failure from January 2010 to December 2012 in our hospital including 622 cases of clinical data, and to select 516 cases of healthy people in medical examination center during the same period as a control group.Clinic or telephone follow-up recorded chronic patients with heart failure and sudden death acting as end. We analyzed possible candidate genes, according to four gene variants related functions, rs41315858 (G1885E), rs3766871 (G1886S), rs790896 (G> A) and rs723672 (T> C), by using Logestic, Cox regression analysis of four candidate gene variants for related research. Results 622 cases of chronic heart failure patients were enrolled and 516 patients in the control group. Genetic analysis showed that the gene variant alleles carried rs376687lA RyR2 may increase in patients with chronic heart failure ventricular arrhythmia risk; correction may be associated with the disease after risk factors, rs376687lA allele carries an increased risk of cardiogenic death and sudden cardiac death, and gene mutation alleles carried on rs790896A RyR2 can reduce the risk of sudden cardiac death. Conclusion Gene mutation rs376687lA RyR2 on genetics is predictor of ventricular arrhythmias and sudden cardiac death, and rs790896A allele is protective factor in patients with chronic heart failure which can be reduced ventricular arrhythmias and sudden cardiac death in risk.

目的 评价实时荧光定量PCR分析低氧性肺动脉高压大鼠肺动脉平滑肌基因表达时12个候选内参基因表达的稳定性,获得最适合的内参基因。方法 以低氧性肺动脉高压大鼠肺动脉平滑肌为研究对象,选择文献报道的常用12种内参基因为候选内参基因,利用geNorm和NormFinder程序分析实时荧光定量PCR数据,筛选出最适内参基因。结果 12个候选内参基因在低氧性肺动脉高压大鼠肺动脉平滑肌表达稳定性由强到弱顺序为:TBP>B2M>HPRT1>HMBS>RPL13a>18sRNA>PPIA>ACTB>GUSB>TFRC>GAPDH>PGK1,平均表达稳定度(M值)均<0.5,geNorm和NormFinder评估后推荐使用TBP和B2M一起作为该研究时的内参基因。结论 同时使用TBP和B2M是实时荧光定量PCR分析低氧性肺动脉高压大鼠肺动脉平滑肌基因表达的最适合内参基因,为低氧性肺动脉高压相关基因研究提供最优内参基因。

Objective To compare and select the suitable reference genes in real-time quantitative PCR analysis of rat pulmonary artery smooth muscle cells mRNA expression level of pulmonary hypertension. Methods To choose appropriate reference gene, the expression of twelve commonly use housekeeping genes were examined in rat pulmonary artery smooth muscle cells of hypoxia-induced pulmonary hypertension by using geNorm and NormFinder programs. Results The expression consistency of 12 genes was (from high to low): TBP>B2M>HPRT1>HMBS>RPL13a>18sRNA>PPIA>ACTB>GUSB>TFRC>GAPDH>PGK1. The average expression stability(M) values of them were low than 0.5. TBP and B2M reference genes were recommended to use in the same condition. Conclusion TBP and B2M reference genes were the most suitable combination of the reference genes for real-time quantitative PCR analysis in rat pulmonary artery smooth muscle cells of hypoxia-induced pulmonary hypertension.

神经元特异性烯醇化酶(neuron-specific enolase, NSE)是糖酵解途径中一种重要的同工酶;特异性位于神经元和神经内分泌细胞中。小细胞肺癌(small cell lung cancer,SCLC)细胞浆内含有神经内分泌颗粒,具有神经内分泌分化的特征,为恶性程度高的神经内分泌系统肿瘤。因此,NSE是SCLC诊断中最敏感的肿瘤标志物,在SCLC的临床诊断、治疗、预后均有重要应用价值,科学合理联合检测肿瘤标记物,将能为临床诊疗工作提供有力的帮助。

目的 了解青海省北京/W系结核分枝杆菌分布特征。方法 收集青海地区结核分支杆菌临床分离株,采用RD105缺失基因检测鉴定北京/W系结核分枝杆菌。结果 共收集237株结核分枝杆菌临床分离株,采用RD105缺失基因检测鉴定北京/W系结核分枝杆菌220株,占92.8%,非北京/W结核分枝杆菌,共17株,占7.2%。北京/W系结核分枝杆菌在青海地区性别与民族分布差异没有统计学意义(P＞0.05)。结论 北京/W结核分枝杆菌为青海地区流行菌株,在人群易于发生感染和传播。

Objective To ascertain the epidemiological characteristics of Beijing/W lineage Mycobacterium tuberculosis in Qinghai Province. Methods M. tuberculosis clinical isolates were collected and identified with an RD105 deletion test.Statistical analysis was performed by using the test. Results Totally, 237 clinical isolates of M. tuberculosis were collected in which 220 strains (92.8%) belonged to the Beijing/W lineage of M. tuberculosis while 17strains (7.2%) belonged to the non-Beijing/W lineage of M. tuberculosis according to the RD105 deletion test. There were no significant differences in the distribution of Beijing/W lineage of M. tuberculosis in the gender and nationality (P＞0.05). Conclusion Beijing/W lineage of M. tuberculosis were prevalent in Qinghai province and prone to having infection and transmission in the crowd.

目的 构建抑癌基因SEMA3B真核表达载体pcDNA3.1-SEMA3B,并检测其对肺癌A549细胞恶性生物学行为的影响。方法 应用PCR扩增SEMA3B全长cDNA片段,构建真核表达载体pcDNA3.1-SEMA3B。克隆PCR、双酶切法、基因测序验证过表达载体构建成功。将pcDNA3.1-SEMA3B真核表达载体和空载体pcDNA3.1分别转染入A549细胞中,应用qRT-PCR、Western blot检测SEMA3B mRNA、蛋白表达水平的变化;MTS法检测细胞增殖;流式细胞仪检测细胞凋亡、细胞周期;克隆形成实验检测细胞集落形成能力。结果 SEMA3B基因扩增片段与预测片段一致,克隆成功,且测序鉴定证实真核表达载体构建成功。转染pcDNA3.1-SEMA3B真核表达载体可上调SEMA3B mRNA、蛋白表达水平,且可抑制A549细胞的增殖,诱导凋细胞亡,细胞被阻滞在G1期,抑制细胞集落形成能力。结论 成功构建了SEMA3B基因真核表达载体,抑癌基因SEMA3B在肺癌恶性生物学进程中可能发挥重要作用。

Objective To construct the eukaryotic expression vector of the cancer suppressor gene, SEMA3B, and research the effects on malignant biological behavior of lung cancer A549 cells. Methods By reverse transcriptase-polymerase chain reaction (RT-PCR), the full length SEMA3B gene was amplified and then was inserted into pcDNA3.1. The recombinant plasmid pcDNA3.1-SEMA3B was confirmed correctly through double enzyme digestion and PCR identification, which was transfected into lung cancer A549 cells by lipid media transfection. The untransfected A549 and A549 transfected with pcDNA3.1 were used as controls. SMEA3B gene was detected by qRT-PCR and western blot. MTS assay, flow cytometry, and colony formation test were performed to evaluate the effect of overexpression of SEMA3B gene on A549 cell proliferation, apoptosis, cell cycle, and colony forming ability. Results The amplied fragment of SEMA3B gene by PCR was consistent with the anticipated result, the SEMA3B gene was cloned successfully. And the recombinant plasmid pcDNA3.1-SMEA3B was constructed successfully through gene sequence identification. After transfection of pcDNA3.1-SEMA3B, SEMA3B mRNA and protein expression levels were raised, and overexpression of SEMA3B gene in A549 cells significantly inhibited the proliferation of A549 cells, induced apoptotic cell death, blocked cell cycle in the G1 phase, and suppressed cell colony-forming ability. Conclusion The recombinant pcDNA3.1-SEMA3B is constructed successfully. SEMA3B gene can significantly inhibit the malignant biological behavior of lung cancer A549 cells.

      目的   探讨载脂蛋白E（ApoE）基因多态性与卒中后认知障碍的相关性，即大动脉粥样硬化型脑梗塞的严重程度。方法   采用病例——对照研究的方法，收集九江学院附属医院神经内科的100例急性缺血性脑卒中且病因分型为大动脉粥样硬化型患者（脑梗死组）和50例性别、年龄匹配的非缺血性脑卒中患者（对照组）。检测患者的 ApoE 基因型、血脂、美国国立卫生院卒中量表（NIHSS）、卒中后6个月简易智力状态检查量表（MMSE）等，采用多因素方差分析等统计学方法分析他们之间的关联性。结果  ApoE 3/4基因型频率与Ɛ3、Ɛ4等位基因频率，在脑梗死组别中高于对照组（P＜0.05）。同时，携带Ɛ3等位基因患者的低密度脂蛋白水平高于携带Ɛ2、Ɛ4等位基因的患者；进一步分析发现含Ɛ3等位基因的脑梗死患者NIHSS评分更高、卒中后认知障碍更严重（P＜0.05）。结论  ApoE基因型为Ɛ3/4、等位基因Ɛ3、Ɛ4更易罹患大动脉粥样硬化型脑梗死，提示该基因型是脑梗死的易感基因，脑梗死后认知障碍患者Ɛ3等位基因的频率较高，可能是卒中后认知障碍的易感因素。

       Objective  To  explore the  relationship  between ApoE  gene  polymorphisms  and  post-stroke  cognitive  impairment，the severity of large artery atherosclerotic cerebral infarction．Methods  A  case-control research  study was conducted，gathering  data from  100 individuals  diagnosed with large artery atherosclerotic cerebral infarction according to the TOAST classification，who admitted to the Neurology Department of the Affiliated Hospital of Jiujiang University．Additionally，50 non-ischemic stroke patients，matched for gender and age，were included as the control group．The patients were assessed for ApoE genotype，blood lipid，NIHSS，and MMSE scale at 6 months post-stroke，and statistical methods were used to analyze their associations.  Results  Significant differences were observed in the ApoE 3/4 genotype frequency and Ɛ3、Ɛ4 allele frequency between patients with cerebral infarction and the control group，with a notably higher incidence of cerebral infarction in the former．Furthermore，patients carrying the Ɛ3 allele exhibited significantly higher LDL levels than those carrying Ɛ2 or Ɛ4．The analysis also revealed that patients with the Ɛ4 allele experienced higher NIHSS and severer post-stroke cognitive impairment．Conclusions  The findings suggest that the ApoE genotype Ɛ3/4 and allele Ɛ3、Ɛ4 may predispose individuals to develop large atherosclerotic cerebral infarction，indicating a susceptibility gene for cerebral infarction．Additionally，the Ɛ3 allele was associated with a higher frequency of cognitive deficits after cerebral infarction，implying that it may be a predisposing factor for post-stroke cognitive impairment．

       根据美国国家胆固醇教育计划成人组第三次报告NECP-ATPⅢ会议定义，当男性年龄＜55岁，女性年龄＜65岁诊断为冠状动脉粥样硬化性心脏病（冠心病）时即为早发冠心病（pCAD）。作为冠心病的特殊类型之一，pCAD发生多伴明显家族史。近年来随着早发冠心病患者人数呈明显上升趋势，且单核苷酸多态性（SNP）研究和全基因组关联研究的迅速发展，与早发冠心病相关的基因多态性研究成为热点。笔者利用多个文献数据库检索国内外相关文献，对近年早发冠心病的基因多态性研究进展予以综述，并尝试归纳总结出新的重点研究方向。

   According to the third meeting of the Adult Education Group of the Cholesterol Education Program of the United States（NECP-ATPⅢ），premature coronary artery disease（pCAD）is a disease diagnosed in men ＜55 years old and women ＜65 years old，which is a special form of CAD with multiple obvious family history．In recent years，with the increasing number of patients with pCAD，and the rapid development of single nucleotide polymorphism（SNP）and genome-wide association studies，the study of gene polymorphism related to premature coronary artery disease has become a hot topic．Several database were searched to collect relevant literature at home and abroad，and the research progress of gene polymorphism of premature coronary artery disease in recent years was summarized，and tried to provide new key research directions．

       炎症性肠病（IBD）是一种以反复腹痛、腹泻、血便和体重降低为主要表现的慢性特发性性疾病，主要分为溃疡性结肠炎与克罗恩病两种类型。近年来，IBD的患病率随着城市化和工业化进展迅速升高，给中国和全球的公共健康带来沉重的负担。随着人类基因组技术的发展，越来越多的证据表明，遗传学因素在IBD发病过程中起着不可或缺的作用。在亚欧人群中，通过大规模全基因组关联研究现已明确了320个IBD易感基因位点。IBD易感基因在影响机体的细胞代谢、免疫功能调节、肠道上皮屏障和微生物清除等多个方面发挥着重要作用。本文就IBD相关易感基因及其多态性的研究进展进行综述，从基因层面揭示IBD发病的分子机制，并对探索IBD因人而异的个性化治疗方案提供帮助。

    Inflammatory bowel disease（IBD）is a chronic idiopathic disease characterized by recurrent abdominal pain，diarrhea，bloody stools，and weight loss．Ulcerative colitis and Crohn’s disease represent the two main types of IBD．In recent years，the prevalence of IBD has increased rapidly with the advancement of industrialization，imposing a heavy burden on public health in China and globally．Currently，with the development of genomics，a growing body of evidence suggests that genetic factors play an indispensable role in the pathogenesis of IBD．In the Eurasian population，320 IBD susceptibility gene loci have been identified through large-scale genome-wide association studies．IBD susceptibility genes play a crucial role in various aspects affecting cellular metabolism，immune function regulation，intestinal epithelial barrier，and microbial clearance．This article reviews the susceptibility genes and their polymorphisms associated with IBD，revealing the molecule mechanisms of IBD from gene perspectives and contributing to the development of personalized treatment strategies tailored to individual IBD patients．