分子诊断学重点.docx

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1、moleculardiagnostics：Itrepresentstheapplicationoftheprinciplesofbasicmolecularbiologytotheinvestigationofhumandiseaseprocesses.中心法则isthetheorythatDNAencodesRNA(theprocessoftranscription)whichencodesproteins(translation),butthatinformationdoesnotflowfromproteinstoDNA.DNA复制:theprocessbywhichthedoubl

2、ehelixisunwoundandeachstrandactsasatemplate.Basesarematchedtosynthesizethenewpartnerstrands.转录:theprocessbywhichanRNAcopyofageneismade.逆转录:synthesisofaDNAusinganRNAtemplate.翻译:theprocessbywhichribosomesusetheinformationinmRNAstosynthesisproteins.基因:thebasicunitofheredity.Usually,thisisequatedwitht

3、heproductionofoneRNAoroneprotein.Agenecontainscodingregions,introns,untranslatedregionsandcontrolregions内含子:aregionthatinterruptsthetranscribedpartofagene.Anintronistranscribed,butisremovedbysplicingduringmaturationofthetranscript.ThewordreferstotheinterveningsequenceinboththeDNAanditsRNAproduct.外

4、显子:aregionofagenethatisultimatelyrepresentedinthatgene’smaturetranscript.ThewordreferstoboththeDNAanditsRNAproduct.RNA剪切：RemovethenoncodingsequencesfromprimaryRNAtranscript.选择性剪切：produceofmanydifferentproteinsfromonegene.从一个mRNA前体中通过不同的剪切方式产生不同mRNA剪接异构体的过程，而最终的蛋白质也会不同。非编码序列：Noncodingsequencesconta

5、ininformationthat  doesnotleadtothesynthesisofanactiveRNAmoleculeorprotein.编码序列：CodingsequencesgiverisetoallofthetranscribedRNAsofthecell,includingmRNA.RNA编辑：RNAediting:thetermRNAeditingisusedtodescribethepost-transcriptionalalterationofgenesequencesbydiversemechanismsincludingthedeletion,insertio

6、nandmodificationofnucleotides.向导RNA(gRNAs):smallRNAsthatbindtoregionsofanmRNAprecursorandserveastemplateforeditingaregionupstream.CpG岛：aregionofDNAcontainingmanyunmethylatedCpGsequences.Usuallyassociatedwithactivegenes.点突变：Apointmutationisasimplechangeinonebaseofthegenesequence.删除突变：Mutationsthatr

7、esultinmissingDNAarecalleddeletions.插入突变：MutationsthatresultintheadditionofextraDNAarecalledinsertions.框移突变：inaframe-shiftmutation,oneormorebasesareinsertedordeleted,theequivalentofaddingorremovingletterinasenten