遗传学重点提纲Word文档格式.docx

遗传学重点提纲Word文档格式.docx

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Thefundamentalphysicalandfunctionalunitofheredity,whichcarriesinformationfromonegenerationtothenext

Allele:

Oneofthedifferentformsofagenepair.Ateachautosomallocusanindividualpossessedtwoalleles,oneinheritedfrommumandonefromdad.

Genotype:

Thecombinationofallelesthatanindividualpossesses.

Phenotype:

Thephysicalcharacteristicsofacellororganismasdefinedbyitsgeneticconstitution

Linkage:

Theassociationofgenesonthesamechromosome.

Recombination:

Theexchangeofcorrespondingchromosomepartsbetweenhomologouschromosomesbybreakageandreunion

第二部分

Genesarearrangedonchromosomeslinearly.

Duringmeiosis

⏹Alleleslocatinginthesamelociofthehomologouswillbesegregatedwiththehomologousmovingtothedifferentgametes.

⏹Thegenesinthedifferentnon-homologousareindependentlyassorted.

⏹Thegenesinthesamechromosomesarelinked,whichwillmovetogether.

⏹Thenon-allelesinthepairofthehomologousmightberecombinedduetothecross-overoccurringbetweenthehomologous.

第三部分

Theprincipleofsegregation——

⏹Aphysicalcharacteristicofaorganismisdeterminedbyapairofgeneticfactors,whichiseitherdominantorrecessive.

⏹Thepairoffactorssegregatefromeachotherduringthegameteformation.

Theprincipleofindependentassortment——Thefactorsdeterminedfordifferentcharacteristicswillbeindependentlyassortedduringthegameteformation

Principleoflinkageandcrossover——Agroupofgenesarearrangedonachromosomelinearly.Theywillmovetogetherwiththechromosomeandmightberecombinedduetothecross-overoccurringbetweenthepairofhomologouschromosomesduringmeiosis.

第四部分

Geneticdisorderorinheriteddisease:

ThediseasescausedbyhumanchromosomalaberrationorDNAmutation

ChromosomedisordersDuplicationordeletionofthecertainchromosomesorthecertainchromosomalsegments

•Numberabnormality

•Structureabnormality

Single-genedisorderCausedbysinglegenemutation

⏹Mendeldisease

⏹Transferredinpedigree

⏹Autosomalorsexchromosomal

⏹Dominantorrecessive

Mitochondrialgeneticdisorder

⏹ThemutationisintheencodingregionsofmitochondrialDNA

⏹Singlegenemutation

⏹TransmitwithmitochondrialDNA

-Maternaltransmitting

Polygenicdisorder——Resultingfromcomplexfunctionsofbothmultiplegenesandmultipleenvironmentalfactors

⏹Familyhistory,butincidenceismuchlowerthanMendel’smodel

Somaticcellgeneticdisorder

⏹Accumulatingresultsofchangesofmultiplegenesandenvironmentalfactorsinacertainduration.

⏹Mutationsnormallylimitedinsomaticcells

⏹Mutationtransmittedbymitosis

Chapter2基因

aDNAsegment,abasicunitofheredity

⏹Chemically:

AspecificDNAsegment,containingthecodefortheaminoacidsequenceofofapolypeptidechain.

⏹Inphysics:

Arrangedonchromosomelinearly,canbeexchangedandtransmittedtothenextgeneration.

⏹Functionally:

Controllingtheexpressionofspecificcharacteristicsofalivingorganism.

Promoter——DNAsequencesclusteredaroundstartsiteoftranscription（5’region）specificallyrecognizedbyRNApolymeraseandpromotingthegenetranscription

Enhancer——Promoter-specific----Tissue-specific

⏹ADNAsequenceenhancingthepromoterfunction

⏹Locatedineitherupstreamordownstreamofstartsite,3Kbormore

⏹Both5′－3′or3′－5′dirctions

⏹Functiononboththegenesinupstreamanddownstream.

Terminator

⏹Theendofdownstreamofgene

⏹TerminatethetranscriptionofRNA

⏹Composedofareversedrepetitivesequenceandspecific5′-AATAAA-3

GeneFusion——TwodifferentgenesarefusedresultedfromrecombinationofDNAfragments

Genome

⏹Totalgeneticinformationinalivingorganism.

⏹TotalgenesinahaploidysetofchromosomeswiththemitochondrialDNA.

Structuralgene——Genesdirectingthesynthesizingproteins

Chapter3染色体

⏹Chromatinisthebasiccomponentsinthecellnucleus

⏹ComposedofDNA,histoneandnon-histoneprotein

⏹Euchromatin:

Slightlyandevenlystained,non-orlow-repetitiveDNAregions

⏹Heterochromatin:

Darklyandunevenlystained,highlyrepetitiveDNAregions

FluorescenceInSituHybridization（FISH）‘’

⏹UsingDNAprobelabeledwithacertainmarker

⏹HybridizingwithDNAinchromosomesandnucleionslides

⏹Probeshybridizedwiththefragmentinchromosomearedetectedbysignalsfromthelabeledmarkers

⏹（Rapidmappingofgenesandsequencesinchromosome

⏹Detectingsmallfra