分子生物学技术在临床检验中的应用

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1、分子生物学技术在临床检验中的应用Molecularbiologytechniquesinaclinicallab为什么要用分子生物学技术诊断人体疾病?(Whydoweneedmolecularbiologytechniquesforclinicaldiagnosis?)不同层次检验分析分子水平(molecular)生化水平(biochemistry)细胞水平(cell)组织水平(tissue)个体水平(individual)群体水平(population)致病有机体人体内部系统自身紊乱（微生物寄生虫等）（如：malaria）原核真核胞膜、胞浆胞核（染色体等）蛋白、糖、脂核酸（

2、DNA、RNA等）分子水平组织胞膜、胞浆（包括线粒体等），胞核（染色体等）蛋白、糖、脂核酸（DNA、RNA等-）化学物、空气等机体水平(组织）细胞水平亚细胞结构细胞人体疾病HumanDiseasemicroRNA,siRNA外伤Trauma什么是分子生物学？Whatdoesmolecularbiologymean?Molecularbiologyisthestudyofbiologyatamolecularlevel.Thefieldoverlapswithotherareasofbiologyandchemistry,particularlygeneticsandbioch

3、emistry.MolecularbiologychieflyconcernsitselfwithunderstandingtheinteractionsbetweenDNA,RNAandproteinbiosythesisandlearninghowtheseinteractionsareregulatedExpressioncloningPolymerasechainreaction(PCR)GelelectrophoresisSouthernblottingNorthernblottingWesternblottingSequencingLinkageanlysisAr

4、raysAllelespecificoligonucleotideAbandonedtechnology什么是分子生物学技术？Whataretechniquesofmolecularbiology?分子生物学技术字在临床检验中的应用1.感染性疾病中应用2.人类疾病相关基因的检查3.肿瘤的检测(differentiate)、预防和治疗（包括疗效观察）4.pharmacogenomics5.组织配型HLA2Ⅱ（DR、Q……）6.亲子鉴定7.法医鉴定ClevelandClinicalFoundationARUP遗传性疾病的类型1.Chromsomaldisease2.Single-

5、genedisease,monogenicdiseaseAutosomaldominantinheritance,ADAutosomalrecessiveinheritance,ARX-linkeddominantinheritance,XDX-linkedrecessiveinheritance,XRY-linkedinheritance3.Polygenicdisease,Multifactorialdisease(1)A.Majorgene+othergenes+otherfactorsB.Manyminorgene+otherfactors(2)Veryimporta

6、nt,includingalotofcommondiseases(3)ResearchmethodsPopulationgenetics,STRlinkageanalysis,SNPs4.Mitochondrialgenicdisease,mtDNA5.Somaticcellgeneticsdisease遗传性疾病的类型（续）DNA分子结构改变-基因突变1.Chromosomeaberration2.GenemutationPointmutationDeletionInsertionTandemrepeat基因突变的类型1.transitionortransversionsa

7、me–sensemutationmissensemutationnon-sensemutationterminationcodonmutation2.Frameshiftmutationa(includingsomesplicingmutations)3.Condonmutation(Condoninsertionorinsertion)4.Mispairedsynapsisandunequalcrossing-over-Fusiongene5.Dynamicmutation3.Condonmutati