分子诊断学重点

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1、moleculardiagnostics：Itrepresentstheapplicationoftheprinciplesofbasicmolecularbiologytotheinvestigeitionofhumandiseaseprocesses.中心法则isthetheorythatDNAencodesRNA(theprocessoftranscription)whichencodesproteins(translation),butthatinformationdoesnotflowf

2、romproteinstoDNA.DNA复制：theprocessbywhichthedoublehelixisunwoundandeachstreindactsasatemplate.Basesarematchedtosynthesizethenewpartnerstrands.转录：theprocessbywhichanRNAcopyofageneismade.逆转录：synthesisofaDNAusinganRNAtemplate.翻译：theprocessbywhichribosomes

3、usetheinformationinmRNAstosynthesisprotoins.基因：thebasicunitofheredity.Usually,thisisequatedwiththeproductionofoneRNAoroneprotein.Agenecontainscodingregions,introns,untranslatedregionsandcontrolregions内含子：aregionthatinterruptsthetranscribedpartofagene.

4、Anintronistranscribcd,butisremovedbysplicingduringmaturationofthetranscript.ThewordreferstotheinterveningsequenceinboththeDNAanditsRNAproduct.外显子：aregionofagenethatisultimatelyrepresentedinthatgene，smaturetranscript.ThewordreferstoboththeDNAanditsRNAp

5、roduct.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，而最终的蛋口质也会不同。非编码序列：NoncodingsequencescontaininformationthatdoesnotleadtothesynthesisofanactiveRNAmolecu

6、leorprotoin.编码序列：CodingsequencesgiverisetoallofthetranscribedRNAsofthecell,includingmRNA.RNA编辑：RNAediting:thetermRNAeditingisusedtodescr让ethepost"transcriptionalalterationofgenesequencesbydiversemechanismsincludingthedelction,insertionandmodificationo

7、fnuclcotidcs.向导RNA(gRNAs):smallRNAsthatbindtoregionsofanmRNAprecursorandserveastemplateforeditingaregionupstream.CpG岛：aregionofDNAcontainingmanyunmethylatedCpGsequences.Usuallyassociatedwithactivegenes.点突变：Apointmutationisasimplechangcinonebaseofthege

8、nesequence.册0除突变：MutationsthatresultinmissingDNAarecalleddeletions.插入突变：MutationsthatresultintheadditionofextraDNAarecalledinsertions.框移突变：inaframe-shiftmutation,oneormorebasesareinsertedordeleted,theequivalentofaddingorremovingletterinasenten