遗传前半部分总结英文班.docx
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遗传前半部分总结英文班.docx
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遗传前半部分总结英文班
第一章绪论
一、※名词解释
1.医学遗传学Medicalgeneticsisthespecialtyofmedicinethatinvolvesthediagnosisandmanagementofhereditarydisorders.
2.遗传学Geneticsisconcernedwithvariationandheredityinalllivingorganisms.
3.人类遗传学Humangeneticsisthescienceofvariationandheredityinhumans.
4.细胞遗传学Cytogenetics:
thestudyofchromosomes.
5.基因组学Genomics-thestudyofgenome,itsorganizationandfunctions.
6.群体遗传学Populationgenetics-geneticvariationinhumanpopulationsandfactorsthataffectallelefrequencies.
7.临床遗传学Clinicalgenetics-applicationofgeneticstodiagnosisandpatientcare.
8.遗传咨询Geneticcounseling-riskinformation,psychologicalandeducationalsupporttopatientsand/ortheirfamilies.
9.基因座Locus-achromosomallocation.
10.等位基因Alleles-alternativeformsofthesamelocus.
11.突变Mutation-achangeinthegeneticmaterial,usuallyrareandpathological..
12.多态性Polymorphism-achangeinthegeneticmaterial,usuallycommonandnotnecessarilypathological.
13.基因型Genotype:
Anindividual’sgeneticmakeup-formsofaparticulargeneatagivenlocus.
14.表现型Phenotype:
Theobservableexpressionofagenotype.
15.纯合子Homozygote-anorganismwithtwoidenticalalleles.
16.杂合子Heterozygote-anorganismwithtwodifferentalleles.
17.半合子Hemizygote-havingonlyonecopyofagene.Malesarehemizygousformostgenesonthesexchromosomes.
18.显性性状Dominanttrait-atraitthatshowsinaheterozygote.
19.隐性性状Recessivetrait-atraitthatishiddeninaheterozygote.
二、填空或选择
1、Ageneticdiseaseordisorderistheresultofchanges,ormutations,inanindividual’sDNA.
2、Manygeneticdiseasesaremultifactorial—theyarecausedbymutationsinseveralgenescompoundedbyenvironmentalfactors.
3、Geneticdiseasescanbeinheritedbecausetheyaremutationsinthegermcells生殖细胞ofthebody—thecellsinvolvedinpassinggeneticinformationfromparentstooffspring.
4、GeneticdiseasescanalsoresultfromchangesinDNAinsomaticcells体细胞,orcellsinthebodythatarenotgermcells.
三、简答
Majortypesofgeneticdisease
1、Singlegenedisorders-Osteogenesisimperfecta成骨不全症-autosomaldominant
-Sicklecellanemia镰状细胞性贫血-autosomalrecessive
-Haemophilia血友病-X-linked
2、Chromosomaldisorders-Classicexampleistrisomy21-Downsyndrome
3、Multifactorial/Polygenicdisorders,Complex/Commondiseases
-TypeIandtypeIIdiabetes,autism孤独症,multiplesclerosis多发硬化症
第二章人类基因
一名词解释
1、基因Ageneisthebasicunitofheredityinalivingorganism.Alllivingthingsdependongenes.Genesholdtheinformationtobuildandmaintainanorganism'scellsandpassgenetictraitstooffspring.
2基因组Genomeistheentiretyofanorganism‘shereditaryinformation,andincludesboththegenesandthenon-codingsequencesoftheDNA.
二、填空或选择
1、EukaryoticGeneStructureissplitgene.
2、humangenome:
Nucleargenome(核基因组)Mitochondrialgenome(线粒体基因组)
3、人类基因组按DNA序列分类:
(一)单拷贝序列800~1000bp
(二)重复多拷贝序列
1、简单序列
•小卫星DNA:
MinisatelliteDNA(AlsoreferredasVNTR)isasectionofDNAthatconsistsofashortseriesofbases10-60bp.
微卫星DNA:
Microsatellites,alsoknownasSimpleSequenceRepeats(SSRs)orshorttandemrepeats(STRs),arerepeatingsequencesof1-6basepairsofDNA.
2、中度重复DNA和可移动DNA因子
三、简答
1、Geneclassification
•solitarygene(单一基因)
genewithauniquesequence,thatoccursonceinahaploidsetofchromosomes.
•genefamily(基因家族)
agroupofgenesthatshareasimilarsequenceofDNAandshareimportantcharacteristics.
•pseudogene(假基因)
dysfunctionalrelativesofknowngenesthathavelosttheirprotein-codingabilityorarenolongerexpressedinthecell.
•tandemlyrepeatdsequence(串联重复基因)
apatternoftwoormorenucleotidesisrepeated
第三章基因突变
1、mutationsarechangesinagenomicsequence:
theDNAsequenceofacell‘sgenomeortheDNAorRNAsequenceofavirus.
•Mayoccurinsomaticcells(aren’tpassedtooffspring)
•Mayoccuringametes配子(eggs&sperm)andbepassedtooffspring
2、Mutagens诱变剂ormutagenicagents
物理因素:
ultravioletlight紫外光,x-rays,cosmic宇宙的energy,gammaradiation,aiphaparticles,betaparticlesβ粒子andneutrons中子
化学因素:
nitrousacid亚硝酸,hydroxylamine羟胺,ethyl乙基,methanesulfonate甲磺酸酯
生物因素:
病毒,细菌与真菌
*3、mechanismofmutation
一、Staticmutation静态突变
(一)pointmutation点突变
1、basesubstitution碱基替换
Transition转换:
purine嘌呤changestoanalternatepurine;pyrimidine嘧啶changestoanalternatepyrimidine.一种嘌呤碱或相应的嘌呤-嘧啶碱基被另外一种嘌呤碱或相应的嘌呤—嘧啶碱基对所取代。
Tansversions颠换:
apositionwithapyrimidinechangetohaveapurine;or,purinetopyrimidine.某种嘌呤碱或相应的嘌呤-嘧啶碱基被另外一种嘧啶或其相应的嘧啶-嘌呤碱基对所置换。
1同义突变samesensemutation:
asingleDNAbasesubstitutionresultinginnoalternateoeaminoacid.
2无意突变non-sensemutation:
asingleDNAbasesubstitution碱基替换,resultinginastopcodon.
3终止密码突变terminatorcondonmutation:
whenasinglebasesubstitutioncausesthesubstitutionofastopcondonforanaminoacidcondon.
4错义突变missensemutation:
whenssinglebasesubstitutioncausesthesubstitutionofoneaminoacidforanother.
2、移码突变frame-shiftmutation:
是一种由于基因组DNA多核苷酸链中碱基对的插入或缺失,以致自插入或缺失点之后部分的或所有的三联体遗传密码子组合发生改变的基因突变形式。
(二)片段突变:
缺失,重复,重排
二、Dynamicmutation动态突变:
theterm‘dynamicmutation’wasintroducedtodistinguish.theuniquepropertiesofexpanding,unstableDNArepeatesequencesfromotherformsofmutation.
第五章单基因疾病的遗传
1、单基因遗传病(single-genedisorder,monogenicdisorder):
指由一对等位基因控制而发生的遗传性疾病,它们的传递方式遵循孟德尔定律。
单基因遗传病分类(categoriesofinheritance):
①autosomalrecessive常染色体隐性(AR)
②autosomaldominant常染色体显性(AD)
③X-linkedrecessiveX伴显性(XD)
④X-linkeddominantX连锁隐性(XR)
⑤Y-linkedY连锁
2、Pedigrees系谱图见书47页,注意一些不常见的英文
(结婚mating,近亲结婚consanguineousmating,先证者proband)
一、Autosomaldominantinheritance,AD
1、genotype:
affected:
AA,Aa
2、代表疾病:
Huntingtondisease,HD:
isaneurodegenerative神经变性的geneticdisorderthataffectsmusclecoordinationandleadstocognitivedecline认知下降anddementia痴呆.
Marfansyndrome:
ConnectiveTissue结缔组织DisorderAffectsFBN-1GeneofChromosome15
※3、常染色体完全显性遗传的特征:
Hallmarksofautosomaldominantinheritance
∙Affectsbothsexesequally;
∙Affectedhaveatleastoneaffectedparent;
∙Achildofanaffectedandanunaffectedhas50%riskofdisease.
二、Autosomalrecessiveinheritance,AR--------aa
•Phenylketonuria(PKU)苯丙酮尿症absenceofenzymephenylalanine-hydroxylase(PAH,苯基丙氨酸羟化酶)Phe->Tyr酪氨酸increaseofplasmaticPhesincebirth-risinglevels-impairsbraindevelopment.after6M-severementalretardation智力落后-IQunder50.decreasedpigmentation色素ofhairandskin-absenceofTyr
•Tay-Sachsdisease黑蒙性白痴neuronsandglialcells胶质细胞ofCNS-mentalretardation智力迟钝,blindness
※遗传特征:
∙Tendtobelimitedtoasinglesibship血缘关系
∙Notfoundinmultiplegenerations
∙Malesandfemalesareaffectedwithequalprobability
∙Parent’sbrotherhave1/4riskofdisease
∙Parent’sparentsalwaysnormalorcarrier
三、X-linkeddominantinheritance
1、genotype:
unaffected:
XXXYaffected:
XBXXBXBXBY
2、hypophosphatemicrickets低磷酸盐血症性佝偻病
•Nutritionalphosphatedeficiency
•Prematurity早熟
•Decreasedintestinalabsorptionofphosphate
•Renalphosphatewasting
•oncogenicosteomalacia致瘤的软骨病
※3、遗传特征:
∙Morefemalesthanmales
∙Alldaughtersofaffectedmalesareaffected,butnosons
∙Achildofanaffectedfemalehas50%riskofdisease
四、X-linkedrecessiveinheritance
1、genotype:
unaffected:
XXXYcarrier:
XbYaffected:
XbXbXbY
2、Hemophilia血友病
•Thebloodfailstoclotnormally
•LackingabloodclottingfactorVIII(antihemophilicglobulin,AHG)bleedingfromevenminorcuts
•HemophiliaB-"ChristmasDisease"isadefectinclottingfactorIX.
•Transfusionsoffreshwholebloodorplasmaorfactorconcentratescontrolbleeding
※3、遗传特征:
∙Affectsalmostexclusivelymen
∙Affectedmenbornfromcarriermother,with50%riskofdisease
∙Nomaletomaletransmission
∙Traitskipsgenerations
五、Y-linkedinheritance
※遗传特征
•Allsonsofanaffectedmaleareaffected
•Affectsonlymales
•Affectedmalesalwayshaveaffectedfathers
Effectfactorsforsingle-genedisorder影响单基因遗传病分析的因素
一、Incompletedominance不完全显性遗传:
Incompletedominanceisaformofintermediateinheritanceinwhichonealleleforaspecifictraitisnotcompletelydominantovertheotherallele.Thisresultsinacombinedphenotype.
二、Codominance共显性遗传:
Codominanceoccurswhenbothofthecontributionsofbothallelesarevisibleanddonotoverpowereachotherinthephenotype.
三、Delayeddominance延迟显性:
Sometimesthedominantalleleexpressesitselflateindevelopment(e.g.,Huntingtondisease),inwhichcasethealleleissaidtoshowdelayeddominance.
四、Irregulardominance不规则显性遗传:
∙Skippedgeneration隔代遗传
Aphenomenonofpedigreesinwhichageneistransmittedfromoneaffectedpersontoanotherthroughaphenotypicallyunaffectedperson,asbyrecessivity(especiallyforx-linkedtraits),epistasis(异位显性)orabsenceofanenvironmentalchallengesuchasatoxin.
∙Penetrance外显率
Thefrequencyorrateofoccurrenceofaparticulartraitordiseaseexpressedamongindividualscarryingthesamedisease-causinggene.
五、Expressivity表现度:
Expressivityrefertovariationsinaphenotypeamongindividualscarryingaparticulargenotype.
六、Pleiotropy基因的多效性:
Pleiotropydescribesthegeneticeffectofasinglegeneonmultiplephenotypictraits.
七、Geneticheterogeneity遗传异质性:
Thephenomenonthatasinglephenotypeorgeneticdisordermaybecausedbyanyoneofamultiplenumberofallelesornon-allele(locus)mutations.
八、DominanceorRecessivemutation同一基因可产生显性或隐性突变
九、Geneticanticipation遗传早现:
isaphenomenonwherebythesymptomsofageneticdisorderbecomeapparentatanearlierageasitispassedontothenextgeneration.
一十、Geneticimprinting遗传印记:
Genomicimprintingisageneticphenomenonbywhichcertaingenesareexpressedinaparent-of-origin-specific
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