简介:摘要目的确定1个常染色体显性遗传性迟发性非综合征性耳聋 (non-syndromic hearing loss,NSHL)家系的致病变异。方法收集先证者及其家系成员的临床资料,采集其外周血样,提取基因组DNA,应用核心家系全外显子组测序对先证者及其父母19 396个基因的编码区及侧翼序列进行测序,寻找可能的致病变异。用Sanger测序法验证候选变异并对家系其他成员进行检测。结果发现先证者DFNA5基因第8内含子存在1个单碱基缺失杂合变异(c.1183+1delG p.?),该变异为父源性。结论应用核心家系全外显子组测序确定了1个迟发性NSHL家系的致病变异,为遗传咨询提供了依据。
简介:摘要目的探究一个常染色体显性非综合征型语后聋家系的致病基因变异类型,明确可能的遗传学病因。方法应用高通量测序方法对先证者进行415个遗传性耳聋相关基因的序列检测,应用Sanger测序法对高通量测序结果进行验证并对家系成员进行基因变异位点检测。结果先证者基因组DNA中检测到一个与非综合征型常染色体显性耳聋15(autosomal dominant deafness 15,DFNA15)相关的POU4F3基因c.842T>A(p.Ile281Asn)杂合变异,该家系中的其他4例患者(包括先证者的母亲、弟弟、二姨和外祖父)均检测到POU4F3基因c.842T>A(p.Ile281Asn)杂合变异,听力正常人员未检测到POU4F3基因c.842T>A(p.Ile281Asn)变异。按照美国医学遗传学与基因组学学会遗传变异分类标准与指南进行致病性评级,POU4F3基因c.842T>A(p.Ile281Asn)变异为可能致病变异(PM2+PM5+PP1+PP3+PP4)。结论该家系为一种罕见的由POU4F3基因杂合变异引起的DFNA15型耳聋家系,遗传方式为常染色体显性遗传,POU4F3基因c.842T>A(p.Ile281Asn)变异是一个新发现的变异,在该家系中与耳聋表型共分离,是该家系耳聋发生的遗传学病因,可以根据该变异对家系进行遗传咨询及再发风险评估。
简介:AbstractObjective:The aim of this work was to explore the feasibility of in vivo and non-invasive monitoring of deuterium/hydrogen (2H/1H) exchange at the metabolic level upon exposure to heavy water (2H2O).Methods:The healthy female mice were randomly assigned to two groups after day 0 when both mice received standard drinking water. The treated mouse was fed with 2H2O (80%, v/v) and the control mouse fed with standard drinking water (H2O) over next 13 days. Real-time mass spectrometric analysis of volatile metabolism emitted through breathing and the skin was performed on days 1, 2, 3, 10, 12, and 13. Animal experiment was approved by the Laboratory Animal Ethics Committee of Jinan University (approval No. 20161117163322) on October 29, 2021.Results:We observed a replacement of 1H by 2H in 52 mass spectral features (60 2H/1H isotopologue pairs) for the mouse fed with 2H2O, but not for the control mouse. These included pyruvic acid and lactic acid, lysine and methyl-lysine as well as short-chain fatty acids comprising acetic acid, propionic acid, butyric acid and valeric acid.Conclusion:Secondary electrospray ionization-high resolution mass spectrometry allows monitoring in vivo2H-incorporation of metabolites in a non-invasive and real-time setup and opens new opportunities to use 2H tracing to extend current metabolic studies, especially those with a focus on anaerobic glycolysis, lysine methylation and gut microbiome via monitoring of short-chain fatty acids.
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简介:BackgroundTaxifolin(Tax)isanessentialnaturalantioxidant.MultiplestudieshaveshownthatTaxcanprotectcardiomyocytesfromischemia-reperfusioninjury.However,theunderlyingmechanismisstillunclear.MethodsH9C2cellswererandomlydividedintocontrol,H_2O_2group,Taxpretreatmentgroup(Tax+H_2O_2);Taxeffectgroup.CellactivitywasdetectedbyCCK-8andtheintracellularstructurewasobservedbytransmissionelectronmicroscopy.AutophagywasdeterminebyWesternblottinganalysisofBeclin-1,Bcl-2andPKC.ResultsTaxpretreatmentsignificantlyincreasedanti-apoptoticproteinBcl-2andautophagyproteinBeclin-1.ExpressionofPKCwasinhibitedbyTax.ConclusionsTaxpretreatmentcouldprotectH9C2cellsagainstH_2O_2-induceddamagethroughtheBcl-2andautophagypathways.
简介:摘要目的朗迈2(LabUmat2+Urised2)全自动尿液分析仪是LabUmat2尿液干化学分析仪和Urised2尿液有型成分分析仪通过同一标本运输轨道联机检测尿常规的全自动仪器。检测项目多、速度快、精密度高,尿液有形成分分析结合人工显微镜检查准确度高。方法LabUmat2全自动尿液干化学分析仪反射光度计法,折射仪法。Urised2全自动尿液有型成分分析仪自动离心镜检,影像式神经网络智能识别系统检测。结果LabUmat2分析仪,配用专用的尿液分析试纸条,检测尿液化学成分;Urised2分析仪检测尿液有形成分。结论朗迈2(LabUmat2+UriSed2)全自动尿液分析仪应用全过程严格按照检测前、检测中、检测后的质量保证体系做好全程质量控制,可及时、准确获得尿常规报告,为临床诊断、疗效监测、预后判断提供可靠依据。同时也是临床实验室尿常规检测技术的提高。
简介:RecombinanthumanGABAAreceptorswereinvestigatedinvitrobycoexpressionofcDNAscodingforα1,β2andγ2subunitsinthebaculovirus/Sf-9insectcellsystem,Asingleaminoacidexchangeα1(asparaticacid151toasparaginorα1(threonine149toglutamine)intheN-terminal,extracellularpartoftheα1subunitinducedabout10folddecreaseinanantagonistpitrazepineaffinity.OtherGABAAreceptorligandshadlittledifferenceintheiraffinity.Itwaslikelythat151and149aminoacidresidueswereessentialforthebindingaffinityandefficacyofpitrazepinetoGABAAreceptorcombinationscontainiαααααααααnganα1subunit.
简介:目的评价CHADS22及CHA2DS2-VASc评分系统在冠心病外科治疗中的意义.方法选择2006年1月至2010年1月行不停跳冠状动脉旁路移植术的768例患者,术后新发房颤患者97例.回顾患者的围术期及随访资料,应用CHADS2及CHA2DS2-VASc评分系统进行分析.结果768例患者术后新发房颤发生率12.6%,分为术后新发房颤组与非房颤组.新发房颤组与非房颤组平均年龄分别为(70.74±8.21)岁和(65.90±9.83)岁,围术期脑卒中分别为8例和9例,CHADS2评分值分别为3.20±1.26和2.13±0.94,CHA2DS2-VASc评分值分别为4.20±1.50和3.23±1.07.CHADS2和CHA2DS2-VASc评分是术后新发房颤的预测因素,与围术期脑卒中显著相关(P<0.01).结论冠心病外科治疗中应用CHADS2及CHA2DS2-VASc评分系统可预测术后新发房颤及围术期脑卒中,对冠心病术后新发房颤的抗凝及抗血小板治疗决策提供了依据,对卒中风险及预后有一定的评估价值.
简介:摘要直肠梅毒的症状不典型,容易误诊、漏诊,临床上缺少检测组织梅毒螺旋体的商品化试剂。现报道2例直肠梅毒病例,患者均以消化道症状起病,肠镜检查提示直肠病变,但病理检查未能明确性质,通过宏基因组学二代测序在直肠组织中查见大量梅毒螺旋体片段,结合患者梅毒血清学检测为阳性,近期有同性无保护肛交史,支持直肠梅毒诊断,驱梅治疗后病情缓解。提示宏基因组学二代测序技术可以作为特殊组织和器官感染梅毒螺旋体的补充检测手段。
简介:摘要MARCH(membrane-associated RING-CH fingerprotein)家族是在21世纪初发现的一类E3泛素连接酶,有11个家族成员,在生物体内通过对底物蛋白进行泛素化修饰从而发挥多种调控作用。膜相关RING-CH蛋白2(membrane-associated RING-CH protein Ⅱ),简称MARCH2,常见的靶点有转铁蛋白受体(transferrin receptor,TfR)、突触融合蛋白6(syntaxin 6,STX-6)、CD86(B7-2)、人DLG1(discs large tumour suppressor)和囊性纤维跨膜传导调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)以及β2肾上腺素能受体(β2-adrenergic receptors,β2-AR),在病毒免疫逃避、肿瘤发生及激动剂脱敏等方面发挥着作用。其主要通过泛素化修饰在哺乳动物的蛋白修饰及泛素化降解过程,发挥着举足轻重的作用,尤其是调控细胞内囊泡运输的蛋白及表面受体。但目前对MARCH2的功能研究仍有许多空白之处尚待填补。本文就MARCH2的起源、结构及功能进行阐述,为后续基础及临床研究提供一定的依据。