云南4个少数民族带绦虫分子鉴定研究

目的 利用分子遗传标志对采自云南西部彝族(楚雄)、傈僳族(怒江)、普米族(怒江)、白族(大理)等4个少数民族带绦虫标本作生物多态性的研究. 方法取云南彝族分离株、傈僳分离株、普米分离株、白族分离株和贵州从江分离株带绦虫成虫节片,提取线粒体DNA,PCR扩增线粒体DNA细胞色素B(mtDNA-Cytb)序列部分片段测序;结合GenBank中已知猪带绦虫、牛带绦虫和牛带绦虫亚洲亚种 mtDNA-Cytb序列,使用PHYLIP软件包运用最大似然法和最大简约法构建系统发育树.结果系统发育树显示云南傈僳族、普米族和白族带绦虫标本与台湾牛带绦虫业洲业种的遗传距离最接近,距云南彝族、贵州从江牛带绦虫标本较远,与猪带绦虫则更远. 结论云南傈僳族(怒江)、普米族(怒江)和白族(大理)带绦虫标本属于牛带绦虫亚洲弧种,云南彝族(楚雄)带绦虫标本属于牛带绦虫;mtDNA-Cytb 序列分析可以用于带绦虫生物多态性研究.     

云南大理白族带绦虫mtDNA-Cytb序列测定及分析

目的利用分子遗传标记对采自云南大理白族地区人体带绦虫标本进行生物多态性的研究。方法从云南大理采集人体带绦虫标本株成虫节片,抽提虫体基因组DNA,PCR扩增线粒体DNA细胞色素B(mtDNA-Cytb)序列部分片段,测序;结合GenBank中已知猪带绦虫、牛带绦虫和亚洲带绦虫mtDNA-Cytb序列,经DNAMAN软件处理后计算遗传距离并构建系统发育树状图。结果大理白族带绦虫标本系统发育树显示大理(B1,B2,B5,B6)株带绦虫标本与亚洲带绦虫的遗传距离最接近,距牛带绦虫标本较远,与猪带绦虫则更远。大理(B3,B4)株带绦虫标本与猪带绦虫的遗传距离最接近,距牛带绦虫和亚洲带绦虫标本远。结论云南大理(B1,B2,B5,B6)株带绦虫标本属于亚洲带绦虫,而(B3,B4)株带绦虫标本属于猪带绦虫;mtDNA-Cytb序列分析可以用于带绦虫生物多态性研究。     

高血压分子遗传学研究进展

近年来,高血压分子遗传学机制方面的研究取得了令人振奋的进展,其中Liddle综合征(Liddles syndrone,LS)、糖皮质激素可治疗的高血压(Glu cocorticoid-remediable aldosteronism,GRA )和盐皮质激素假性增多症(apparent mineralocorticoid excess,AME)等疾病的机制得到了阐明,Geller等发现一种醛固酮受体突变引起的高血压.此外,还有大量相关性研究对高血压与一些参与血压调控的候选基因的关系进行了探讨.现将这方面的研究进展进行综述.     

Gilbert综合征的分子遗传学基础

Gilbert综合征（Gilbert’s syndrome,GS）是一种遗传性结合型胆红素水平升高造成胆红素排泄障碍,而肝脏功能正常的综合征,是人类最为常见的综合征类型之一。尿苷二磷酸葡糖苷酸基转移酶（UGT）基因启动子区的基因多态性是发生GS的分子遗传学基础,由于UGT酶蛋白的表达水平下降,导致肝脏内非结合     

云贵两省三地带绦虫的分子鉴定——核糖体DNA第一内转录间隔区（ITS1）限制性酶切片段长度多态性（RFLP）分析

目的用PCR-RFLP方法对rDNA-ITS1片段进行分析,以进一步明确云贵地区是否存在牛带绦虫亚洲亚种,并建立一种快速鉴定方法. 方法 取贵州都匀株（DY）、贵州从江株（CJ）、云南大理株（DL）带绦虫及台湾株（TW）成虫标本,剪取孕节,抽提DNA,PCR扩增rDNA- ITS1片段,分别用4种限制性内切酶MspI、CfoI、AluI、RsaI对扩增片段作酶切分析. 结果 PCR产物经AluI、RsaI酶切后, TW、DL、DY和CJ株RFLP图谱一致;经MspI、CfoI酶切后,TW、DL和DY株RFLP图谱一致,CJ株显著不同. 结论 1）DL和DY株与TW株同属牛带绦虫亚洲亚种;而CJ株是传统牛带绦虫;2）rDNA-ITS1的PCR-RFLP分析方法简便,可以用于带绦虫的分类学研究.     

云贵两省三地带绦虫的分子鉴定--核糖体DNA第一内转录间隔区(ITS1)限制性酶切片段长度多态性(RFLP)分析

目的用PCR-RFLP方法对rDNA-ITS1片段进行分析,以进一步明确云贵地区是否存在牛带绦虫亚洲亚种,并建立一种快速鉴定方法. 方法 取贵州都匀株(DY)、贵州从江株(CJ)、云南大理株(DL)带绦虫及台湾株(TW)成虫标本,剪取孕节,抽提DNA,PCR扩增rDNA- ITS1片段,分别用4种限制性内切酶MspI、CfoI、AluI、RsaI对扩增片段作酶切分析. 结果 PCR产物经AluI、RsaI酶切后, TW、DL、DY和CJ株RFLP图谱一致;经MspI、CfoI酶切后,TW、DL和DY株RFLP图谱一致,CJ株显著不同. 结论 1)DL和DY株与TW株同属牛带绦虫亚洲亚种;而CJ株是传统牛带绦虫;2)rDNA-ITS1的PCR-RFLP分析方法简便,可以用于带绦虫的分类学研究.     

心房颤动的分子遗传学机制

心房颤动是临床上最常见且危害严重的心律失常,可诱发心力衰竭、导致心动过速性心肌病、增加血栓栓塞的危险。目前房颤的分子遗传学研究成为人们关注的热点,并取得了初步成果,从基因水平探讨房颤的发病机制,为临床工作提供了重要信息,有助于临床诊治和预防。同时,房颤也是一种遗传异质性疾病,存在研究的复杂性和矛盾性。笔者现就目前房颤研究的相关进展作一综述。     

鼠疫耶尔森氏菌荧光标记扩增片段长度多态性分型方法

目的 建立荧光标记扩增片段长度多态性(FAFLP)技术平台，探讨鼠疫菌基因分型。方法 用5种核酸限制性内切酶消化鼠疫菌基因组DNA，选择最佳内切酶组合，酶切片段经接头连接后，用荧光素标记的5条EcoRⅠ引物和9条MseⅠ引物组成的引物配对扩增，选择最佳引物组合，进行系列PCR条件的优化。扩增产物经ABI PRISM 3100 Genetic Analyzer(遗传分析仪)检测，GeneScan等软件进行分析。结果 成功建立FAFLP技术平台。结论 FAFLP具有快速、简便、廉价、分辨率高、重复性好和污染少的优点，可用于鼠疫菌的基因分型分析。     

乙醛脱氢酶基因多态性与酒精性肝病的关系

目的 观察乙醛脱氢酶(ALDH)基因多态性与山东地区汉族人群酒精性肝病的关系,探讨酒精性肝病遗传学的发病机制。 方法 采用聚合酶链反应结合内切酶酶切及电泳技术,检测山东地区汉族人群中酒精性肝病组、嗜酒组和对照组(各20例)中ALDH各基因型及等位基因的频率并进行比较。结果ALDH2*1、ALDH2*2两种等位基因在对照组与酒精性肝病组之间的分布差异有显著性(x2=4.80,P<0.05),对照组与无肝病嗜酒组之间差异无显著性,在嗜酒组和酒精性肝病组中以ALDH2*1/*1基因型为主,均未检出纯合子的ALDH2*2/*2。 结论 ALDH基因多态性与酒精性肝病的发生关系密切。等位基因ALDH2*2可能是本地区汉族人群中嗜酒和酒精性肝病的负性危险因素。     

Alport综合征的分子遗传学与临床

Ａｌｐｏｒｔ综合征的分子遗传学与临床中心发言胡伟新１病史摘要患者，男性，２６岁，因蛋白尿、血尿３年入我所。患者３年前出现眼睑及双下肢凹陷性浮肿，尿蛋白２＋～３＋，红细胞３～５个／高倍视野，血压正常。曾在外院按慢性肾炎给予足量强的松治疗２个月，无效。每...     

Effect of apolipoprotein E gene Hha I restricting fragment length polymorphism on serum lipids in cholecystolithiasis

AIM:To investigate the role of apolipoprotein E (apoE) polymorphism in the lithogenesis of gallstone and the hereditary pathogenesis of the disease.METHODS: Polymerase chain reaction (PCR) was used to study apoE phenotypes and allele frequencies in patients with gallstones and control, and the fasting serum lipids of subjects were also measured by enzymatic methods.RESULTS:The levels of triglyceride (TG) and very low density lipoprotein cholesterol (VLDL-C) were much higher in E(2/3) patients than that in E(2/3) control. E(3/3) patients were accompanied with remarkably low levels of high density lipoprotein cholesterol (HDL-C) and its subforms.But in E(3/4) patients there were only slight changes in levels of VLDL-C and low density lipoprotein cholesterol (LDL-C).CONCLUSION:Different apoE phenotype patients with gallstones have different cheracteristics of dyslipidemia and the average level of serum lipids in patients with gallstones are higher than subjects without gallstones in the same apoE gene phenotype.epsilon2 allele is possibly one of the dangerous factors in the lithogenesis of cholecystolithiasis.     

Effect of apolipoprotein E gene Hha Ⅰ restricting fragment length polymorphism on serum lipids in cholecystolithiasis

SubjectheadingsapolipoproteinE;polymorphism;lipids;cholecystolithiasis;polymerasechainreactionINTRODUCTIONTheapolipoproteinE(apoE)genelocuspossessesthreealleies,E2,E3andE4,whichareinheritedinco--domainfashionandcodeforthreeisoproteinEZ,E3andE4makingupsixphenotypes,threeheterozygousE2/3,fy/#andfy/#,threehomozygousfy/,,ac/sandE#/.[i7].Thedifferencesofthesemainisoproteinalterthereceptor-bindingaffinityoftheapolipoprotein--containinglipoproteinsandaffectthemetabolismofcholesterolandlipids…     

泉州市无偿献血者4例HTLV-1毒株膜基因系统树分析

目的 HTLV的感染人群分布有明显的区域性特点。福建东南沿海是我国HTLV的主要流行区之一，输血是HTLV的主要传播途径。因此，调查泉州市无偿献血者HTLV-1感染情况，了解该地区HTLV-1毒株亚型、感染来源、基因特点，对阐明我国HTLV-1分布、起源和传播过程具有重要意义。方法 用PCR法扩增HTLV-1毒株的外膜基因gp46片段(env gp46)，自动测序仪测序，并进行同源性比较和系统树分析。结果获得了泉州无偿献血者4例HTLV-1 env gp46部分氨基酸序列。结论 泉州市4例HTLV-1与来自日本、台湾HTLV-1氨基酸序列接近，都属C亚型。     

细菌感染患者早期病原学分子诊断技术

目的 建立细菌感染患者早期病原及耐药性分子诊断技术，以便尽早实施有效的抗感染治疗方案，改善患者预后。方法 扩增细菌23S rRNA基因序列，同时扩增多种耐药基因，设计探针，通过基因芯片杂交技术识别其差异序列，鉴别细菌，检测耐药基因，用于病原早期诊断和耐药谱测定；收集血培养标本223份，脑脊液、胸水、腹水标本339份，尿液标本514份，比较所建立方法与传统方法的一致性，验证所建立技术的可靠性。结果 基因诊断方法可正确检出常见病原菌，并检测其是否携带mecA、SHV、CTX-M-1组和CTX-M-2组耐药基因。检测血、尿及脑脊液等无菌体液标本时，所建立的快速检测方法与常规方法的符合率分别为96．4％、99．8％和99．7％，总体符合率为99．1％，耐药性检测与传统药物敏感结果的符合率为95．7％，其准确性与常规方法相当，检测时间比常规方法平均减少（2．09±1．15）d。结论 多重PCR-基因芯片杂交技术可用于耐药菌感染的病原早期诊断和耐药感染的同步检测，应用于临床可望改善患者的预后。     

Examination of two genetic polymorphisms within the renin-angiotensin system: no evidence for an association with nephropathy in IDDM

Summary Premature cardiovascular disease is common in insulin-dependent diabetic (IDDM) patients who develop diabetic nephropathy. Genetic polymorphism within the renin-angiotensin system has been implicated in the aetiology of a number of cardiovascular disorders; these loci are therefore candidate genes for susceptibility to diabetic renal disease. We have examined the angiotensin converting enzyme insertion/deletion polymorphism and angiotensinogen methionine 235 threonine polymorphism in a large cohort of Caucasian patients with IDDM and diabetic nephropathy. Patients were classified as having nephropathy by the presence of persistent dipstick positive proteinuria (in the absence of other causes), retinopathy and hypertension (n=242). Three groups were examined for comparison: ethnically matched non-diabetic subjects (n=187); a geographically defined cohort of newly diagnosed diabetic patients (n=341); and IDDM patients with long duration of disease (>15 years) and no evidence of overt nephropathy (n=166). No significant difference was seen in distribution of angiotensin converting enzyme or angiotensinogen genotypes between IDDM patients with nephropathy and recently diagnosed diabetic subjects (p=0.282 and 0.584, respectively), nor the long-duration non-nephropathy diabetic subjects (p=0.701 and 0.190, respectively). We conclude that these genetic loci are unlikely to influence susceptibility to diabetic nephropathy in IDDM in the United Kingdom.Abbreviations IDDM Insulin-dependent diabetes mellitus - ACE angiotensin converting enzyme - PCR polymerase chain reaction - LDNN long duration-non-nephropathy group - I/D insertion/deletion - RAS renin-angiotension system     

胰岛素样生长因子和氯沙坦联合治疗心肌梗死的分子机制研究

目的探讨胰岛素样生长因子1(IGF-1)基因转染和氯沙坦联合治疗大鼠急性心肌梗死及其机制。方法构建IGF-1基因的腺病毒重组体(ADV-IGF-1),结扎30只大鼠冠状动脉左前降支,造模急性心肌梗死后,随机分为对照组、腺病毒空载体(ADV)组、ADV-IGF-1组、氯沙坦组和ADV-IGF-1加氯沙坦联合治疗组(联合组),每组6只。后3组在心肌梗死周边区域注射10~(11)pfu/ml ADV-IGF-1 0.1ml和(或)以氯沙坦10 mg/(kg·d)灌胃连续1周,1周后,ELISA法测心肌血管紧张素Ⅱ(AngⅡ)蛋白含量变化;实时荧光定量PCR法检测心肌p53、AngⅡ受体、IGF-1、Bcl-2基因表达;Western blot法检测心肌IGF-1蛋白表达。结果与对照组和ADV组比较,ADV-IGF-1组心肌p53、AngⅡ受体基因表达明显降低,AngⅡ蛋白含量明显降低(P<0.05);氯沙坦组明显上调心肌IGF-1基因表达(P<0.05);联合组p53、AngⅡ受体基因弱表达,Bcl-2强表达(P<0.05)。结论心肌梗死后,心肌特异性过表达IGF-1,下调p53基因表达,继而抑制AngⅡ受体基因表达和AngⅡ产生;氯沙坦干预促进IGF-1基因表达;IGF-1基因转染和氯沙坦联合治疗心肌梗死有协同作用。     

血管紧张素原基因G-6A多态性与冠心病的相关性研究

目的 探讨我国河南汉族人群血管紧张素原基因核心启动子区域G-6A多态性与冠心病(CHD)的关系.方法 选择504例确诊CHD的患者和512例无心脏病史的健康体检者,运用多聚酶链反应一限制性内切酶片段长度多态性技术(PCR-RFLP)进行G-6A多态性检测.结果 CHD组A/A基因型频率是64.9%,高于对照组的54.9%(X<'2>=10.565,P<0.05);CHD组A等位基因频率是81.4%,高于对照组的73.3%(X<'2>=19.071,P<0.05).结论 血管紧张素原基因G-6A多态性中A/A纯合子与CHD的发生之间存在相关性,其中A等位基因可能是CHD发病的遗传危险因子.     

Clinical impact of nosocomial infection with pandemic influenza A (H1N1) 2009 in a respiratory ward in Guangzhou

BackgroundNosocomial outbreaks of pandemic influenza A (H1N1) 2009 virus [A(H1N1)pdm09] easily develop due to its high transmissibility. This study aimed to investigate the clinical impacts of a nosocomial outbreak of A(H1N1)pdm09 between 21 January and 17 February 2016.MethodsPatients who developed influenza-like illness (ILI) more than 48 hours after hospitalization in the index ward were enrolled as suspected patients, defined as group A and quarantined. Patients in other wards were defined as group B. A phylogenetic tree was constructed to determine the origins of the hemagglutinin and neuraminidase genes.ResultsAfter the implementation of an infection control measure bundle, the outbreak was limited to eight patients with ILIs in group A. Nasal swabs from seven patients were positive for A(H1N1)pdm09. All the patients recovered after treatment. Prolonged viral shedding was observed in a patient with bronchiectasis and Penicillium marneffei infection. Compared to the expected duration of hospitalization in patients without fever, those with fever had a median 7-day delay in discharge and a mean excess cost of 3,358 RMB. The four influenza strains identified were genetically identical to the A/California/115/2015 strain. Six of the 54 patients in group B who underwent bronchoscopy developed transient fever. These patients were hospitalized in various wards of the hospital and recovered after a short-term course of empirical antibiotics.ConclusionsAfter the implementation of infection control measures, the nosocomial A(H1N1)pdm09 outbreak was rapidly contained; infected patients had a delay in discharge and excess costs, but no deaths occurred.