商英2班宿舍衛(wèi)生檢查報告和總結

男423沒有發(fā)現(xiàn)大功率電器；廁所較臟；有飲水機；衛(wèi)生情況一般沒有發(fā)現(xiàn)大功率電器；廁所較臟；有飲水機；衛(wèi)生情況一般有一個大功率電器，但據(jù)說不用；有飲水機；衛(wèi)生情況一般428620女619沒有發(fā)現(xiàn)大功率電器；衛(wèi)生情況較好620621沒有發(fā)現(xiàn)大功率電器；東西較多；衛(wèi)生情況較好沒有發(fā)現(xiàn)發(fā)功率電器；衛(wèi)生情況較好622沒有發(fā)現(xiàn)大功率電器；衛(wèi)生情況較好623沒有發(fā)現(xiàn)大功率電器；東西較多；衛(wèi)生情況較好沒有發(fā)現(xiàn)大功率電器；有路由器，無遮蓋；線較多；衛(wèi)生情況較好沒有發(fā)現(xiàn)大功率電器；有路由器，無遮蓋；線較多；東西較多；衛(wèi)生情況較好沒有發(fā)現(xiàn)大功率電器；衛(wèi)生情況較好6246256總結報告

201*年11月2日下午，由班主任帶領班級班長、副班長、團支書和生活委員對各個宿舍的安全衛(wèi)生進行了檢查。檢查結果如下：

1、不論是男生或者女生宿舍，東西較多是一大問題。2、宿舍內部衛(wèi)生都挺不錯，但是廁所的衛(wèi)生就稍遜一籌。3、部分宿舍有飲水機，并是長時間通電的。

4、由于宿舍網(wǎng)線插口較少，所以分流器比較多，導致網(wǎng)線比較多。

5、大功率電器并沒有發(fā)現(xiàn)在使用。

英語（國際商務方向）2班

201*年11月2日

擴展閱讀：遺傳前半部分總結(英文班)

第一章緒論

一、※名詞解釋

1.醫(yī)學遺傳學Medicalgeneticsisthespecialtyofmedicinethatinvolvesthediagnosisand

managementofhereditarydisorders.

2.遺傳學Geneticsisconcernedwithvariationandheredityinalllivingorganisms.3.人類遺傳學Humangeneticsisthescienceofvariationandheredityinhumans.4.細胞遺傳學Cytogenetics:thestudyofchromosomes.

5.基因組學Genomics-thestudyofgenome,itsorganizationandfunctions.

6.群體遺傳學Populationgenetics-geneticvariationinhumanpopulationsandfactors

thataffectallelefrequencies.

7.臨床遺傳學Clinicalgenetics-applicationofgeneticstodiagnosisandpatientcare.

8.遺傳咨詢Geneticcounseling-riskinformation,psychologicalandeducationalsupport

topatientsand/ortheirfamilies.

9.基因座Locus-achromosomallocation.

10.等位基因Alleles-alternativeformsofthesamelocus.

11.突變Mutation-achangeinthegeneticmaterial,usuallyrareandpathological..

12.多態(tài)性Polymorphism-achangeinthegeneticmaterial,usuallycommonandnot

necessarilypathological.

13.基因型Genotype:Anindividual’sgeneticmakeup-formsofaparticulargeneata

givenlocus.

14.表現(xiàn)型Phenotype:Theobservableexpressionofagenotype.15.純合子Homozygote-anorganismwithtwoidenticalalleles.16.雜合子Heterozygote-anorganismwithtwodifferentalleles.

17.半合子Hemizygote-havingonlyonecopyofagene.Malesarehemizygousformost

genesonthesexchromosomes.

18.顯性性狀Dominanttrait-atraitthatshowsinaheterozygote.19.隱性性狀Recessivetrait-atraitthatishiddeninaheterozygote.

二、填空或選擇

1、Ageneticdiseaseordisorderistheresultofchanges,ormutations,inanindividual’sDNA.

2、Manygeneticdiseasesaremultifactorialtheyarecausedbymutationsinseveralgenescompoundedbyenvironmentalfactors.

3、Geneticdiseasescanbeinheritedbecausetheyaremutationsinthegermcells生殖細胞ofthebodythecellsinvolvedinpassinggeneticinformationfromparentstooffspring.4、GeneticdiseasescanalsoresultfromchangesinDNAinsomaticcells體細胞,orcellsinthebodythatarenotgermcells.三、簡答

Majortypesofgeneticdisease

1、Singlegenedisorders-Osteogenesisimperfecta成骨不全癥-autosomaldominant-Sicklecellanemia鐮狀細胞性貧血-autosomalrecessive-Haemophilia血友病-X-linked

2、Chromosomaldisorders-Classicexampleistrisomy21-Downsyndrome

3、Multifactorial/Polygenicdisorders，Complex/Commondiseases

-TypeIandtypeIIdiabetes,autism孤獨癥,multiplesclerosis多發(fā)硬化癥

第二章人類基因

一名詞解釋1、基因Ageneisthebasicunitofheredityinalivingorganism.Alllivingthingsdependongenes.Genesholdtheinformationtobuildandmaintainanorganism"scellsandpassgenetictraitstooffspring.

2基因組Genomeistheentiretyofanorganism‘shereditaryinformation,andincludesboththegenesandthenon-codingsequencesoftheDNA.二、填空或選擇

1、EukaryoticGeneStructureissplitgene.

2、humangenome:Nucleargenome(核基因組)Mitochondrialgenome（線粒體基因組）3、人類基因組按DNA序列分類：（一）單拷貝序列800~1000bp（二）重復多拷貝序列

1、簡單序列

小衛(wèi)星DNA：MinisatelliteDNA(AlsoreferredasVNTR)isasectionofDNAthatconsistsofashortseriesofbases10-60bp.微衛(wèi)星DNA：Microsatellites,alsoknownasSimpleSequenceRepeats(SSRs)orshorttandemrepeats(STRs),arerepeatingsequencesof1-6basepairsofDNA.

2、中度重復DNA和可移動DNA因子

三、簡答

1、Geneclassification

solitarygene（單一基因）

genewithauniquesequence,thatoccursonceinahaploidsetofchromosomes.

genefamily（基因家族）

agroupofgenesthatshareasimilarsequenceofDNAandshareimportantcharacteristics.

pseudogene（假基因）

dysfunctionalrelativesofknowngenesthathavelosttheirprotein-codingabilityorarenolongerexpressedinthecell.

tandemlyrepeatdsequence(串聯(lián)重復基因）apatternoftwoormorenucleotidesisrepeated

第三章基因突變

1、mutationsarechangesinagenomicsequence:theDNAsequenceofacell‘sgenomeortheDNAorRNAsequenceofavirus.

Mayoccurinsomaticcells(aren’tpassedtooffspring)

Mayoccuringametes配子(eggs&sperm)andbepassedtooffspring2、Mutagens誘變劑ormutagenicagents

物理因素：ultravioletlight紫外光,x-rays,cosmic宇宙的energy,gammaradiation,aiphaparticles,betaparticlesβ粒子andneutrons中子

化學因素：nitrousacid亞硝酸,hydroxylamine羥胺,ethyl乙基,methanesulfonate甲磺酸酯生物因素：病毒，細菌與真菌*3、mechanismofmutation

一、Staticmutation靜態(tài)突變（一）pointmutation點突變1、basesubstitution堿基替換

Transition轉換：purine嘌呤changestoanalternatepurine;pyrimidine嘧啶changestoanalternatepyrimidine.一種嘌呤堿或相應的嘌呤-嘧啶堿基被另外一種嘌呤堿或相應的嘌呤嘧啶堿基對所取代。

Tansversions顛換：apositionwithapyrimidinechangetohaveapurine;or,purinetopyrimidine.某種嘌呤堿或相應的嘌呤-嘧啶堿基被另外一種嘧啶或其相應的嘧啶-嘌呤堿基對所置換。

①同義突變samesensemutation:asingleDNAbasesubstitutionresultinginno

alternateoeaminoacid.②無意突變non-sensemutation:asingleDNAbasesubstitution堿基替換，resulting

inastopcodon.③終止密碼突變terminatorcondonmutation:whenasinglebasesubstitution

causesthesubstitutionofastopcondonforanaminoacidcondon.④錯義突變missensemutation:whenssinglebasesubstitutioncausesthe

substitutionofoneaminoacidforanother.

2、移碼突變frame-shiftmutation:是一種由于基因組DNA多核苷酸鏈中堿基對的插入或缺失，以致自插入或缺失點之后部分的或所有的三聯(lián)體遺傳密碼子組合發(fā)生改變的基因突變形式。

（二）片段突變：缺失，重復，重排

二、Dynamicmutation動態(tài)突變:theterm‘dynamicmutation’wasintroducedtodistinguish.theuniquepropertiesofexpanding,unstableDNArepeatesequencesfromotherformsofmutation.

第五章單基因疾病的遺傳

1、單基因遺傳病（single-genedisorder,monogenicdisorder）：指由一對等位基因控制而發(fā)生的遺傳性疾病，它們的傳遞方式遵循孟德爾定律。單基因遺傳病分類（categoriesofinheritance）：①autosomalrecessive常染色體隱性(AR)

②autosomaldominant常染色體顯性(AD)③X-linkedrecessiveX伴顯性(XD)④X-linkeddominantX連鎖隱性(XR)⑤Y-linkedY連鎖

2、Pedigrees系譜圖見書47頁，注意一些不常見的英文

（結婚mating，近親結婚consanguineousmating，先證者proband）一、Autosomaldominantinheritance,AD1、genotype:affected:AA,Aa2、代表疾�。篐untingtondisease，HD：isaneurodegenerative神經(jīng)變性的geneticdisorderthat

affectsmusclecoordinationandleadstocognitivedecline認知下降anddementia癡呆.

Marfansyndrome：ConnectiveTissue結締組織DisorderAffectsFBN-1Geneof

Chromosome15

※3、常染色體完全顯性遺傳的特征：HallmarksofautosomaldominantinheritanceAffectsbothsexesequally;

Affectedhaveatleastoneaffectedparent;

Achildofanaffectedandanunaffectedhas50%riskofdisease.二、Autosomalrecessiveinheritance,AR--------aa

Phenylketonuria(PKU)苯丙酮尿癥absenceofenzymephenylalanine-hydroxylase

(PAH，苯基丙氨酸羥化酶)Phe->Tyr酪氨酸increaseofplasmaticPhesincebirth-risinglevels-impairsbraindevelopment.after6M-severementalretardation智力落后-IQunder50.decreasedpigmentation色素ofhairandskin-absenceofTyr

Tay-Sachsdisease黑蒙性白癡neuronsandglialcells膠質細胞ofCNS-mental

retardation智力遲鈍,blindness※遺傳特征：

Tendtobelimitedtoasinglesibship血緣關系Notfoundinmultiplegenerations

MalesandfemalesareaffectedwithequalprobabilityParent’sbrotherhave1/4riskofdiseaseParent’sparentsalwaysnormalorcarrier

三、X-linkeddominantinheritance

1、genotype：unaffected：XXXYaffected:XBXXBXBXBY2、hypophosphatemicrickets低磷酸鹽血癥性佝僂病NutritionalphosphatedeficiencyPrematurity早熟DecreasedintestinalabsorptionofphosphateRenalphosphatewasting

oncogenicosteomalacia致瘤的軟骨病※3、遺傳特征：

Morefemalesthanmales

Alldaughtersofaffectedmalesareaffected,butnosonsAchildofanaffectedfemalehas50%riskofdisease四、X-linkedrecessiveinheritance

1、genotype：unaffected:XXXYcarrier:XbYaffected:XbXbXbY2、Hemophilia血友病

Thebloodfailstoclotnormally

LackingabloodclottingfactorVIII(antihemophilicglobulin,AHG)bleedingfrom

evenminorcuts

HemophiliaB-"ChristmasDisease"isadefectinclottingfactorIX.

Transfusionsoffreshwholebloodorplasmaorfactorconcentratescontrolbleeding

※3、遺傳特征：

Affectsalmostexclusivelymen

Affectedmenbornfromcarriermother,with50%riskofdiseaseNomaletomaletransmissionTraitskipsgenerations

五、Y-linkedinheritance※遺傳特征

AllsonsofanaffectedmaleareaffectedAffectsonlymales

Affectedmalesalwayshaveaffectedfathers

Effectfactorsforsingle-genedisorder影響單基因遺傳病分析的因素

一、Incompletedominance不完全顯性遺傳：Incompletedominanceisaformof

intermediateinheritanceinwhichonealleleforaspecifictraitisnotcompletelydominantovertheotherallele.Thisresultsinacombinedphenotype.

二、Codominance共顯性遺傳：Codominanceoccurswhenbothofthecontributionsofboth

allelesarevisibleanddonotoverpowereachotherinthephenotype.

三、Delayeddominance延遲顯性：Sometimesthedominantalleleexpressesitselflatein

development(e.g.,Huntingtondisease),inwhichcasethealleleissaidtoshowdelayeddominance.

四、Irregulardominance不規(guī)則顯性遺傳：

Skippedgeneration隔代遺傳

Aphenomenonofpedigreesinwhichageneistransmittedfromoneaffectedpersontoanotherthroughaphenotypicallyunaffectedperson,asbyrecessivity(especiallyforx-linkedtraits),epistasis（異位顯性）orabsenceofanenvironmentalchallengesuchasatoxin.

Penetrance外顯率

Thefrequencyorrateofoccurrenceofaparticulartraitordiseaseexpressedamongindividualscarryingthesamedisease-causinggene.

五、Expressivity表現(xiàn)度：Expressivityrefertovariationsinaphenotypeamongindividuals

carryingaparticulargenotype.

六、Pleiotropy基因的多效性：Pleiotropydescribesthegeneticeffectofasinglegeneon

multiplephenotypictraits.

七、Geneticheterogeneity遺傳異質性：Thephenomenonthatasinglephenotypeorgenetic

disordermaybecausedbyanyoneofamultiplenumberofallelesornon-allele(locus)mutations.

八、DominanceorRecessivemutation同一基因可產生顯性或隱性突變

九、Geneticanticipation遺傳早現(xiàn)：isaphenomenonwherebythesymptomsofa

geneticdisorderbecomeapparentatanearlierageasitispassedontothenextgeneration.

十、Geneticimprinting遺傳印記：Genomicimprintingisageneticphenomenonbywhich

certaingenesareexpressedinaparent-of-origin-specificmanner.

ItisaninheritanceprocessindependentoftheclassicalMendelianinheritance.

十一、Sex-influencedinheritance從性遺傳：Inheritancethatisautosomalbuthasadifferent

intensityofexpressioninthetwosexes,asthatmanifestedinmalepatternbaldness.

Thesetraitsaredeterminedbygenesthatactdifferentlyinthetwosexes.Theusualresultisthatagiventraitappearspreponderantlyinonesex.

Ifamalehasonerecessiveallele,hewillshowthattrait,butitwilltaketworecessiveforthefemaletoshowthatsametrait.

十二、Sex-limitedinheritance限性遺傳：Inheritanceinwhichatraitorphenotypeis

expressedinonesexonly,asinhemophiliaA.

十三、X-chromosomeinactivationX染色體失活：isaprocessbywhichoneofthetwocopies

oftheXchromosomepresentinfemalemammalsisinactivated.

TheinactiveXchromosomeissilencedbypackagingintotranscriptionallyinactiveheterochromatin異染色質.

十四、Phenocopy擬表型：Aphenocopyisanindividualwhosephenotype(generallyreferring

toasingletrait),underaparticularenvironmentalcondition,isidenticaltotheoneofanotherindividualwhosephenotypeisdeterminedbythegenotype.Inotherwordsthephenocopyenvironmentalconditionmimicsthephenotypeproducedbyagene.

第六章多基因疾病的遺傳

1、多基因遺傳:Polygenicinheritancereferstotraitsthatresultfromtheinfluenceofvariationattwoormoreloci,withpossibleenvironmentalinfluencesalso.Nosingle"error"ingeneticinformation

Combinationofsmalleffectsproduce(additiveeffect累加效應)minorgene微效基因majorgene主基因

Combinationofgenotypicfactorsandenvironmentalfactorse.g.diabetesmellitus,cancer2、質量性狀：Aqualitativetraitisexpressedqualitatively,whichmeansthatthephenotypefallsintodifferentcategories.

Thepatternofinheritanceforaqualitativetraitistypicallymonogenetic.Theenvironmenthasverylittleinfluenceonthephenotypeofthesetraits.

3、數(shù)量性狀：Aquantitativetraitshowscontinuedvariation，andisthesumofseveralsmalleffectscausedbythegene.

Ifseveralsmallgeneeffectsarepresent,thephenotypevaluesforapopulationwilltypicallyhaveanormaldistribution.

Examples:height,weight,cholesterollevel.

4、Susceptibility（易感性）：Therisksofgeneticallydeterminingtodiseasesforindividual.5、Liability（易患性）:Theprobabilitiesofdevelopingthediseasewhichdependontheinteractionofvariousgeneticandenvironmentalfactors.

6、Threshold閾值：Someproportionofindividualsaboveacertainliabilitywilldevelopthedisease.

7、Heritability(遺傳度）：Beastatisticaldefinition,theproportionofphenotypicvarianceattributabletogeneticvariance.

8、多基因遺傳病于單基因遺傳病的區(qū)別：Monogenicdisease

GenedirectlyleadstodisorderRecognizableinheritancepatternsOnegeneperfamilyLesscommondiseases

Cysticfibrosis,musculardystrophies

Complexdisease

Geneconfersanincreasedrisk,butdoesnotdirectlycausedisorderNoclearinheritancepattern

InvolvesmanygenesorgenesandenvironmentCommoninpopulation

cancer,heartdisease,dementia

第七章群體遺傳

1、群體遺傳學Populationgeneticsisafieldofbiologythatstudiesthegeneticcompositionofbiologicalpopulations,andthechangesingeneticstructurethatresultfromtheoperationofvariousfactors,includingnaturalselection,geneticdrift,mutationandgeneflow.2、AlleleFrequency等位基因率

Anallelefrequencyistheproportionofoneallelerelativetoallallelesatthelocusinthepopulation(oftenreferredtoas—genefrequency‖).一種等位基因/全部的等位基因3、GenotypeFrequency基因型率

Agenotypefrequencyistheproportionofonegenotyperelativetoallgenotypesataspecificlocus.一種基因型/全部基因型

一、Hardy-WeinbergLaw

TheHardy-Weinbergprinciple:Allelefrequenciesandthegenotypefrequencyina

populationwillremainthesameovertime(inequilibrium)

群體中的基因頻率和基因型頻率一代代保持不變。ifthefollowingconditionsaremet.1.RandomMating隨機婚配

2.Mutationcanbeignored沒有突變3.Nonaturalselection沒有自然選擇4.Nogeneticmigration沒有基因遷移

5.GeneticDriftandgeneticflowarenegligible沒有基因漂變和基因流IfthefrequencyofthedominantalleleA（顯性等位基因）inthefoundingpopulationwasp,andthefrequencyoftherecessiveallelea（隱形等位基因）wasq,thenafteronegenerationofrandommatingthegenotypefrequencieswouldremainfixedandwouldbeintheratio:

p+q=1

p2+2pq+q2=1

二、Factorscausinggenotypefrequencychanges影響遺傳平衡的因素Non-randomMating非隨機婚配Selection選擇Mutation變異

RandomDrift基因漂變Geneflow基因流（一）非隨機婚配：

1、Assortativemating(選型婚配）：positiveassortativemating（陽性選型婚配）negativeassortativemating

2、Consanguinousmating（近親婚配）：有共同祖先血緣關系的親屬之間的婚配。

coefficientofrelationship(親緣系數(shù)，r）istheprobabilitythatatarandomlocus,

theallelestherewillbeidenticalbydescent.近親的程度。

Inbreedingcoefficient(近婚系數(shù)，F(xiàn))istheprobabilitythattwoallelesatarandomly

chosenlocusareidenticalbydescent.子女得到一對相同基因的概率。Coefficientofrelationship(親緣系數(shù)，r）

Parent-child（雙親-子女）first1/2Siblings（同胞）first1/2Uncle-niece（叔-侄）second1/4firstcousins（堂親）third1/83、Inbreedingcoefficient（近婚系數(shù)）ofAutosomalinheritance（常染色體遺傳）一級親屬間的近婚系數(shù)為1/4二級親屬間的近婚系數(shù)為1/8三級親屬間的近婚系數(shù)為1/164、X-linkedinheritance

因為女性有兩條X染色體，所以可以形成純合子，會受到近親婚配的影響。男性為半合子（hemizygote)，近親婚配不受影響。

計算X連鎖基因的F值時，只計算女性F值。傳遞特點：男性的X連鎖基因一定傳給女兒，傳遞概率為1男性的X連鎖基因不可能傳給兒子，傳遞概率為女性的X連鎖基因傳給女兒和兒子的傳遞概率為1/2Inbreedingcoefficient（近婚系數(shù)）ofX-linked

對于X連鎖基因來說：

姨表兄妹3/16舅表兄妹2/16

姑表兄妹和堂兄妹0

所以對于X連鎖疾病，姨表兄妹婚配或舅表兄妹婚配比姑表兄妹或堂表兄妹危害還

要大，姨表兄妹近親婚配危害最大。

近親結婚的危害：增加隱形純合子的頻率。

（二）Factorscausinggenotypefrequencychangesnaturalselection自然選擇

1、Fitness(適合度f）:theextenttowhichanorganismisadaptedtoorabletoproduceoffspringinaparticularenvironment.

是一定環(huán)境條件下，某一基因型個體能夠生存并能將基因傳給后代的相對能力。適合度為0時，表示遺傳性致死，即無生育力，適合度為1時，為生育力正常

2、選擇系數(shù)(selectioncoefficient，s)指在選擇作用下適合度降低的程度，用s表示。s反映了某一基因型在群體中不利于存在的程度，s=1-f。

（三）Factorscausinggenotypefrequencychangesmutation（突變）

AchangeoftheDNAsequencewithinageneorchromosomeofanorganismresultinginthecreationofanewcharacterortraitnotfoundintheparentaltype.

Random（隨機的）:withregardtofitnessaffectArareoccurrence（發(fā)生概率很小）:forasinglelocustheaveragefrequencyofmutations

isabout0.00001-0.0000001

Aweakevolutionaryforce(弱進化動力）:overtheshorttermproducesonlysmall

changesingenefrequency

突變率以每代中每一百萬個基因中發(fā)生突變的次數(shù)表示（n×10-6/基因/代）

設一對等位基因A和a，A的頻率為p，a的頻率為q，A突變?yōu)閍的突變率為u，a突變?yōu)锳的突變率為v。

因此：每代中由A突變?yōu)閍的數(shù)量=pu=（1－q）u由a突變?yōu)锳的數(shù)量=qv

當pu=qvA和a的基因頻率保持不變，群體處于遺傳平衡pu>qva的基因頻率增加pu

（四）Factorscausinggenotypefrequencychangesgeneticdrift（遺傳漂變）geneticchangebychancealonesamplingerror

在小群體中可能出現(xiàn)后代的某基因比例較高，在一代代傳遞中基因頻率明顯改變，破壞了Hardy-Weinberg平衡，這種現(xiàn)象稱為隨機遺傳漂變（geneticshift）。（五）Factorscausinggenotypefrequencychangesgeneflow（基因流）

Definition:themovementofindividuals(orgametes)amongpopulations.

Ifpopulationshavedifferentallelefrequenciesitwillhomogenizethefrequenciesamong

thepopulations.

群體遷移兩個群體混合并相互婚配，新的等位基因進入另一群體，將導致基因頻率改變，這種等位基因跨越種族或地界的漸近混合稱之為基因流（geneflow）三、遺傳負荷

遺傳負荷是指在一個群體中，由于致死基因或有害基因的存在而使群體適合度降低的現(xiàn)象。遺傳負荷包括突變負荷和分離負荷。

分離負荷(segregationload)是指由于雜合子（Aa）和雜合子（Aa）之間的婚配，后代中必將分離而產生一部分適合度降低的純合子（aa），因而導致群體的適合度降低。影響因素:1.近親婚配增加罕見隱性純合子率，增加群體分離負荷2.環(huán)境：電離輻射化學誘變劑

四、Polymorphism多態(tài)現(xiàn)象

GeneticpolymorphismsaredifferentformsofaDNAsequence.Polymorphismsareatypeofgeneticdiversitywithinapopulation"sgenepool.多態(tài)是指在一個群體中，存在由遺傳決定的兩種或兩種以上的變異型或基因型，其中頻率最低的形式也遠遠高于依賴突變所維持的頻率。對于同一基因座上的兩個或兩個以上的等位基因，等位基因頻率至少為0.01，攜帶該等位基因的雜合子頻率大于2%，則認為該基因座具有多態(tài)性。

DNA多態(tài)性、染色體多態(tài)性、蛋白質多態(tài)性、酶多態(tài)性、抗原多態(tài)性（一）DNApolymorphismDNA多態(tài)性

RFLP（限制性片段長度多態(tài)性）第一代遺傳標記VNTR（可變數(shù)目的串聯(lián)重復）第二代遺傳標記SNP（單核苷酸多態(tài)）第三代遺傳標記（二）Chromosomepolymorphism染色體多態(tài)性

是指正常人群中經(jīng)常可見到各種染色體形態(tài)的微小變異，又稱異形性heteromorphism。主要表現(xiàn)為同源染色體大小、形態(tài)或顯帶等方面的改變D組或G組的隨體增大、重復或缺如Y染色體和短臂的長度次縊痕區(qū)加長或縮短

染色體著絲粒區(qū)的熒光強度變異

（三）ProteinPolymorphism蛋白質多態(tài)性

"Proteinpolymorphism"doesnotonlymeangeneticpolymorphism(aminoacidsubstitutionmainlyduetoSNPs)butalsotheonescausedbysplicing

當一種氨基酸被另一種替代就可能導致蛋白質性質的改變。（四）Enzymepolymorphism

酶多態(tài)性表現(xiàn)為許多酶存在同工酶的現(xiàn)象。

同工酶（isoenzyme）是催化相同的化學反應，而酶蛋白的分子結構、理化性質乃至免疫學性質不同的一組酶。同工酶可來自不同等位基因編碼的多肽鏈，或由同一基因的不同轉錄本翻譯的多肽鏈，或翻譯后經(jīng)修飾生成的多分子形式所組成的蛋白質。

酶多態(tài)性產生的原因可以分為三類同工酶

1、多座位同工酶：由不同基因座決定的同工酶。

例如乳酸脫氫酶（lactatedehydrogenase，LDH）2、復等位基因同工酶：同一座位上的不同等位基因所編碼的酶蛋白。

例如胎盤堿性磷酸酶（placentalalkalinephosphatase，PLAP）3、翻譯后同工酶：翻譯產物經(jīng)不同修飾反應產生不同分子形式的同工酶。（五）Antigenpolymorphism抗原多態(tài)性

人類遺傳學應用較多的抗原有紅細胞抗原系統(tǒng)和白細胞抗原系統(tǒng)。個體間抗原性差異是由基因多態(tài)產生的。

第九章人類染色體

1、Chromatin染色質

isthatportionofthecellnucleuswhichcontainsalloftheDNAofthenucleusinanimalcells.isthecomplexcombinationofDNA,RNA,andprotein.

includingeuchromatin常染色質，heterochromatin異染色質andsexchromatin性染色質性染色質是X和Y（染色體）在間期細胞核中顯示出來的一種特殊結構。包括X染色質和Y染色質。

(1)Xchromatin:

InhumanoneoftheXchromosomesinfemalecellsissubjecttoinactivationearlyindevelopmentandcanbeobservedininterphasenucleiasadenselystainingbodyattheperipheryofthenucleus.Lyontheory

X-chromosomeinactivationoccurringearlyinembryogenesis;Itiscompletelyinactive;Itisrandom;

Itisirreversibleandclonallytransmitted

ThenumberofXchromatinisalwaysonelessthanthetotalnumberofXchromosomes.(2)Ychromatin:

BrilliantlyfluorescentbodyseenincellsstainedwiththedyewhichlightsuptheYchromosomemostbrightly.2、chromosome染色體

Duringcelldivision,theDNAmoleculeispackagedintothread-likestructurescalledchromosomes.

Inhumans,eachcellnormallycontains23pairsofchromosomes.Autosomes:1~22pairsSexchromosomes:XX,XY

Humanchromosomesstructure(圖書上108頁)：p短臂；q長臂；centromere著絲粒；satellite隨體；telomere端粒；primaryconstriction初級縊痕（主縊痕）；secondaryconstriction次級縊痕

Humanchromosomestypes:

Metacentricchromosomes:中著絲粒染色體

Submetacentricchromosomes:亞中著絲粒染色體Acrocentricchromosomes:近端著絲粒染色體Telcentricchromosomes:端著絲粒染色體sex-determination

Thebasicrule:iftheYchromosomeispresent,thepersonismale.Ifabsent,theperson

isfemale.

TheYchromosomehasthemainsex-determininggeneonit,calledTDF.Ychromosome:

Containsover200genes

Containsover50millionbasepairs,ofwhichapproximately50%havebeendeterminedXchromosome

Containsover1400genes

Containsover150millionbasepairs,ofwhichapproximately95%havebeendetermined

3、核型Akaryotypeischromosomeconstitutionofanindividual.Inakaryotype,chromosomesarearrangedandnumberedbysize,fromlargesttosmallest.

Karyotypedescription:Including:num.Ofchr.,followedbyacomma,sexchr.constitution,anyabnormalities

46,XXAnnormalfemale46,XYAnnormalmale

47,XY,+21Trisomy21,Downsyndrome

46,XX/47,XX,+21Femalwhoisamosaicoftrisomy21cellsandnormalcellschromosomebanding

QbandingRbandingTbandingCbandingNbanding

AnInternationalSystemforHumanCytogeneticNomenclature,ISCN人類細胞遺傳學命名的國際體制：（詳見書114頁圖）

Thecentromere著絲粒isastandardcytological細胞學的landmarkthatdividesthechromosomeintotwoarms-P,andq.Eacharmisdividedintoregions區(qū)andtheneachregionintospecificbands帶.Numberingisfromthecentromereoutwardoneacharm.Describeabandonachr.:

No.ofchr.Arm.region.band.subband描述一特定帶時需寫明：①染色體序號；②臂的符號；③區(qū)的序號；④帶的序號。

第十章染色體畸變

1、Chromosomeaberration染色體畸變：Anytypeofchangeinthechromosomestructureor

number.

2、RelatedFactors：Chemicalfactors：drugsortoxins

Physicalfactors：ionizingradiationBiologicalfactors:virusorbiologicaltoxinsMaternalfactors：maternalage

3、Chromosomeaberration染色體畸變:

1）Chromosomenumericalaberration染色體數(shù)目畸變：①euploid整倍體改變；

②aneuploid非整倍體改變

2）Chromosomestructuralabnormalities染色體結構畸變一、Chromosomenumericalaberration染色體數(shù)目畸變

（1）euploid整倍體改變

triploid三倍體：diandry雙雄受精anddigyny雙雌受精

tetraploid四倍體：Endomitosis核內的有絲分裂:Chromosomalreplicationwithoutnuclear

orcellulardivisionthatresultsintetraploid.

（2）aneuploid非整倍體改變

Definition：Whenachangeinthechromosomenumberdoesnotinvolveentiresetsofchromosomes,butonlyafewofthechromosomes.Hypodiploid（亞二倍體）：Havingachromosomenumberlessthanthediploidnumber.Hyperdiploid（超二倍體）：Havingachromosomenumbermorethanthediploid

number.Typesofaneuploid

Monosomy單體型:2n-1Eg:45,XY,-21Trisomy三體型:2n+1Eg:47,XY,+21Polysomy多體型:>2n+2Eg:48,XXXXNullsomy缺體型:2n-2Eg:46,XY,-21,-21Mechanismofaneuploid

non-disjunction染色體不分離

Meiotic減數(shù)分裂non-disjunctionMitotic有絲分裂non-disjunctionchromosomelose染色體丟失

二Thetypesofstructuralabnormalities染色體結構畸變的類型deletion缺失：lossofpartofachromosome

Types:

a)TerminalDeletion末端缺失-adeletionthatoccurstowardstheendofa

chromosome.

Anfemalewithdeletionofthelongarmofchr.4band21

簡式46,XX,del(4)(q21)

詳式46,XX,del(4)(pter→q21:)

b)IntercalaryDeletion中間缺失-adeletionthatoccursfromtheinteriorofa

chromosome.

Anfemalewithdeletionfromthethirdbandofthefirstregiontothefifthbandofthesecondregiononthelongarmofchr.4.

簡式46,XX,del(4)(q13q25)

詳式46,XX,del(4)(pter→q13::q25→qter)

duplication重復：extracopiesofapartofachromosome.

Tandemduplication串聯(lián)重復Reversetandemduplication反向串聯(lián)重復inversion倒位：Itisachromosomerearrangementinwhichasegmentofachromosome

isreversedendtoend.

Paracentricinversions臂內倒位

Theinvertedareadonotincludethecentromereandbothbreaksoccurinonearmofthechromosome.

46,XY,inv(1)(p22p34)

46,XY,inv(1)(pter→p34::p22→p34::p22→qter)

Pericentricinversions臂間倒位

Theinvertedareaincludesthecentromereandthereisabreakpointineacharm.

46,XX,inv(2)(p15q21)

46,XX,inv(2)(pterp15::q21→p15::q21→qter)

translocation易位：partofachromosomebreaksoffandattachestoanother

chromosome.Twotypes:

Reciprocaltranslocations相互易位：Theyareusuallyanexchangeofmaterialbetweennonhomologouschromosomes

46，XX，t（2；5）（q21；q31）

46,XX,t(2;5)(2pter→2q21::5q31→5qter;5pter→5q31::2q21→2qter

Robertsoniantranslocation羅伯遜易位：Itisaparticulartypeoftranslocationinvolvingthereciprocaltransferofthelongarmsoftwooftheacrocentricchromosomes:13,14,15,21or22.

45,XY,der(14;21)(q11;p11)

45,XY,-14,-21,+t(14;21)(q11;p11)

ringchromosome環(huán)狀染色體：Aringchromosomeisachromosomewhosearms

havefusedtogethertoformaring.

46,XX,r(2)(p21q31)46,XX,r(2)(p21→q31)

dicentricchromosome雙著絲粒染色體Dicentricchromosomeisanaberrant

chromosomehavingtwocentromeres

46,XX,dic(5;9)(q31;q21)

46,XX,dic(5;9)(5pter→5q31::9q21→9pter)

isochromosome等臂染色體：Anisochromosomeisachromosomethathaslostoneof

itsarmsandreplaceditwithanexactcopyoftheotherarm.

46,X,i(pter→cen→pter);46,X,i(qter→cen→qter)

insertion插入：Aninsertionreferstotheinsertionofalargersequenceintoa

chromosome.

第十一章單基因遺傳病

1、Somedisordersresultwhenamutationcausestheproductofasinglegenetobealteredormissing.ThesedisordersarecalledSingleGeneDisorder.2、單基因遺傳病可分為：

1)moleculardiseases（分子病）：Alterationsinstructure,functionorquantityofnonenzymeproteinsa)Hemoglobinopathies血紅蛋白病b)Plasmaproteindisease血漿蛋白病c)Disordersofcollagen膠原蛋白病d)Receptorproteindisease受體蛋白病

2)Inbornerrorsofmetabolism（先天性代謝缺陷）：Enzymedefectsandtheirconsequences※3、Hemoglobinopathies:

Abnormalhemoglobins:異常血紅蛋白（名解）：hemoglobins:mutationscausing

qualitativeabnormalitiesinhaemoglobins，forexamplesicklecellanemia.Thalassemia:地中海貧血（名解）：mutationscausingquantitativeabnormalitiesin

haemoglobins.

α-Thalassemiaβ-Thalassemia

Hemoglobinopathies血紅蛋白病

1、Globinchainincludingsixkinds：

α,β,Gγ；Aγ,δ[`delt],ε[ep`sail],δ[ksai].Constitutionofhemoglobin：血紅蛋白結構

Apairofsimilarαchains(αorδchain，141AA)

Apairofsimilarβchains(β,γ,δorεchain，146AA）2、發(fā)育階段血紅蛋白分子組成

胎兒F2G22A2成人A(95%以上)22

3、αglobingenecluster類α珠蛋白簇位于7gene16p13

βglobingenecluster類β珠蛋白位于6gene11p15發(fā)育階段特異性

5’3’順次表達、關閉

合成場所特異性

卵黃囊；胎兒肝、脾；骨髓

表達數(shù)量協(xié)調性

類α、類β鏈維持1：1的比例

總之，珠蛋白基因的表達具有時空特異性、精確的協(xié)調性※4、（名解+分類）MainTypesofHemoglobinopathiesGeneMutation:

Pointmutation（點突變）:MissenseMutation錯義突變NonsenseMutation無義突變

TerminationCodonMutation終止密碼子突變

FrameshiftMutation移碼突變

Codendeletionorinsertion密碼子的缺失和嵌入Fusiongene融合基因Genedeletion基因缺失1.Pointmutation

(1).Missensemutation:

Anucleotidechangealterstheaminoacidencodedbyaparticular3-basecodon.MissensemutationcausingSickleCellAnemiaβ-globingene:Codon6:GAG-GTG;

glutamicacid(HbA)valineacid(HbS);(2).NonsenseMutation

AsingleDNAbasesubstitutionresultinginastopcodon.MissensemutationcausingSickleCellAnemiaβ-globingene:

Codon6:GAG-GTG;

glutamicacid(HbA)valineacid(HbS);

Forexample：HbMckees-Rock145chain：UAU(Tyr酪氨酸)UAA（145）(3).TerminationCodonMutation

Amutationcanconvertaterminationcodontoasensecodonspecifyingsomeamino

acid.

Forexample:HbConstantSpringαChain：

UAACAA(Gln谷氨酰胺)173終止密碼（142）

2.FrameshiftMutation

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