商英2班宿舍卫生检查报告和总结

商英2班宿舍卫生检查报告和总结

男423没有发现大功率电器；厕所较脏；有饮水机；卫生情况一般没有发现大功率电器；厕所较脏；有饮水机；卫生情况一般有一个大功率电器，但据说不用；有饮水机；卫生情况一般428620女619没有发现大功率电器；卫生情况较好620621没有发现大功率电器；东西较多；卫生情况较好没有发现发功率电器；卫生情况较好622没有发现大功率电器；卫生情况较好623没有发现大功率电器；东西较多；卫生情况较好没有发现大功率电器；有路由器，无遮盖；线较多；卫生情况较好没有发现大功率电器；有路由器，无遮盖；线较多；东西较多；卫生情况较好没有发现大功率电器；卫生情况较好6246256总结报告

201*年11月2日下午，由班主任带领班级班长、副班长、团支书和生活委员对各个宿舍的安全卫生进行了检查。检查结果如下：

1、不论是男生或者女生宿舍，东西较多是一大问题。2、宿舍内部卫生都挺不错，但是厕所的卫生就稍逊一筹。3、部分宿舍有饮水机，并是长时间通电的。

4、由于宿舍网线插口较少，所以分流器比较多，导致网线比较多。

5、大功率电器并没有发现在使用。

英语（国际商务方向）2班

201*年11月2日

扩展阅读：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Medicalgeneticsisthespecialtyofmedicinethatinvolvesthediagnosisand

managementofhereditarydisorders.

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-geneticvariationinhumanpopulationsandfactors

thataffectallelefrequencies.

7.临床遗传学Clinicalgenetics-applicationofgeneticstodiagnosisandpatientcare.

8.遗传咨询Geneticcounseling-riskinformation,psychologicalandeducationalsupport

topatientsand/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,usuallycommonandnot

necessarilypathological.

13.基因型Genotype:Anindividual’sgeneticmakeup-formsofaparticulargeneata

givenlocus.

14.表现型Phenotype:Theobservableexpressionofagenotype.15.纯合子Homozygote-anorganismwithtwoidenticalalleles.16.杂合子Heterozygote-anorganismwithtwodifferentalleles.

17.半合子Hemizygote-havingonlyonecopyofagene.Malesarehemizygousformost

genesonthesexchromosomes.

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、Manygeneticdiseasesaremultifactorialtheyarecausedbymutationsinseveralgenescompoundedbyenvironmentalfactors.

3、Geneticdiseasescanbeinheritedbecausetheyaremutationsinthegermcells生殖细胞ofthebodythecellsinvolvedinpassinggeneticinformationfromparentstooffspring.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)andbepassedtooffspring2、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:asingleDNAbasesubstitutionresultinginno

alternateoeaminoacid.②无意突变non-sensemutation:asingleDNAbasesubstitution碱基替换，resulting

inastopcodon.③终止密码突变terminatorcondonmutation:whenasinglebasesubstitution

causesthesubstitutionofastopcondonforanaminoacidcondon.④错义突变missensemutation:whenssinglebasesubstitutioncausesthe

substitutionofoneaminoacidforanother.

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,AD1、genotype:affected:AA,Aa2、代表疾病：Huntingtondisease，HD：isaneurodegenerative神经变性的geneticdisorderthat

affectsmusclecoordinationandleadstocognitivedecline认知下降anddementia痴呆.

Marfansyndrome：ConnectiveTissue结缔组织DisorderAffectsFBN-1Geneof

Chromosome15

※3、常染色体完全显性遗传的特征：HallmarksofautosomaldominantinheritanceAffectsbothsexesequally;

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-mental

retardation智力迟钝,blindness※遗传特征：

Tendtobelimitedtoasinglesibship血缘关系Notfoundinmultiplegenerations

MalesandfemalesareaffectedwithequalprobabilityParent’sbrotherhave1/4riskofdiseaseParent’sparentsalwaysnormalorcarrier

三、X-linkeddominantinheritance

1、genotype：unaffected：XXXYaffected:XBXXBXBXBY2、hypophosphatemicrickets低磷酸盐血症性佝偻病NutritionalphosphatedeficiencyPrematurity早熟DecreasedintestinalabsorptionofphosphateRenalphosphatewasting

oncogenicosteomalacia致瘤的软骨病※3、遗传特征：

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、遗传特征：

Affectsalmostexclusivelymen

Affectedmenbornfromcarriermother,with50%riskofdiseaseNomaletomaletransmissionTraitskipsgenerations

五、Y-linkedinheritance※遗传特征

AllsonsofanaffectedmaleareaffectedAffectsonlymales

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：Incompletedominanceisaformof

intermediateinheritanceinwhichonealleleforaspecifictraitisnotcompletelydominantovertheotherallele.Thisresultsinacombinedphenotype.

二、Codominance共显性遗传：Codominanceoccurswhenbothofthecontributionsofboth

allelesarevisibleanddonotoverpowereachotherinthephenotype.

三、Delayeddominance延迟显性：Sometimesthedominantalleleexpressesitselflatein

development(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：Expressivityrefertovariationsinaphenotypeamongindividuals

carryingaparticulargenotype.

六、Pleiotropy基因的多效性：Pleiotropydescribesthegeneticeffectofasinglegeneon

multiplephenotypictraits.

七、Geneticheterogeneity遗传异质性：Thephenomenonthatasinglephenotypeorgenetic

disordermaybecausedbyanyoneofamultiplenumberofallelesornon-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：isaphenomenonwherebythesymptomsofa

geneticdisorderbecomeapparentatanearlierageasitispassedontothenextgeneration.

十、Geneticimprinting遗传印记：Genomicimprintingisageneticphenomenonbywhich

certaingenesareexpressedinaparent-of-origin-specificmanner.

ItisaninheritanceprocessindependentoftheclassicalMendelianinheritance.

十一、Sex-influencedinheritance从性遗传：Inheritancethatisautosomalbuthasadifferent

intensityofexpressioninthetwosexes,asthatmanifestedinmalepatternbaldness.

Thesetraitsaredeterminedbygenesthatactdifferentlyinthetwosexes.Theusualresultisthatagiventraitappearspreponderantlyinonesex.

Ifamalehasonerecessiveallele,hewillshowthattrait,butitwilltaketworecessiveforthefemaletoshowthatsametrait.

十二、Sex-limitedinheritance限性遗传：Inheritanceinwhichatraitorphenotypeis

expressedinonesexonly,asinhemophiliaA.

十三、X-chromosomeinactivationX染色体失活：isaprocessbywhichoneofthetwocopies

oftheXchromosomepresentinfemalemammalsisinactivated.

TheinactiveXchromosomeissilencedbypackagingintotranscriptionallyinactiveheterochromatin异染色质.

十四、Phenocopy拟表型：Aphenocopyisanindividualwhosephenotype(generallyreferring

toasingletrait),underaparticularenvironmentalcondition,isidenticaltotheoneofanotherindividualwhosephenotypeisdeterminedbythegenotype.Inotherwordsthephenocopyenvironmentalconditionmimicsthephenotypeproducedbyagene.

第六章多基因疾病的遗传

1、多基因遗传:Polygenicinheritancereferstotraitsthatresultfromtheinfluenceofvariationattwoormoreloci,withpossibleenvironmentalinfluencesalso.Nosingle"error"ingeneticinformation

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

Combinationofgenotypicfactorsandenvironmentalfactorse.g.diabetesmellitus,cancer2、质量性状：Aqualitativetraitisexpressedqualitatively,whichmeansthatthephenotypefallsintodifferentcategories.

Thepatternofinheritanceforaqualitativetraitistypicallymonogenetic.Theenvironmenthasverylittleinfluenceonthephenotypeofthesetraits.

3、数量性状：Aquantitativetraitshowscontinuedvariation，andisthesumofseveralsmalleffectscausedbythegene.

Ifseveralsmallgeneeffectsarepresent,thephenotypevaluesforapopulationwilltypicallyhaveanormaldistribution.

Examples:height,weight,cholesterollevel.

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

6、Threshold阈值：Someproportionofindividualsaboveacertainliabilitywilldevelopthedisease.

7、Heritability(遗传度）：Beastatisticaldefinition,theproportionofphenotypicvarianceattributabletogeneticvariance.

8、多基因遗传病于单基因遗传病的区别：Monogenicdisease

GenedirectlyleadstodisorderRecognizableinheritancepatternsOnegeneperfamilyLesscommondiseases

Cysticfibrosis,musculardystrophies

Complexdisease

Geneconfersanincreasedrisk,butdoesnotdirectlycausedisorderNoclearinheritancepattern

InvolvesmanygenesorgenesandenvironmentCommoninpopulation

cancer,heartdisease,dementia

第七章群体遗传

1、群体遗传学Populationgeneticsisafieldofbiologythatstudiesthegeneticcompositionofbiologicalpopulations,andthechangesingeneticstructurethatresultfromtheoperationofvariousfactors,includingnaturalselection,geneticdrift,mutationandgeneflow.2、AlleleFrequency等位基因率

Anallelefrequencyistheproportionofoneallelerelativetoallallelesatthelocusinthepopulation(oftenreferredtoas—genefrequency‖).一种等位基因/全部的等位基因3、GenotypeFrequency基因型率

Agenotypefrequencyistheproportionofonegenotyperelativetoallgenotypesataspecificlocus.一种基因型/全部基因型

一、Hardy-WeinbergLaw

TheHardy-Weinbergprinciple:Allelefrequenciesandthegenotypefrequencyina

populationwillremainthesameovertime(inequilibrium)

群体中的基因频率和基因型频率一代代保持不变。ifthefollowingconditionsaremet.1.RandomMating随机婚配

2.Mutationcanbeignored没有突变3.Nonaturalselection没有自然选择4.Nogeneticmigration没有基因迁移

5.GeneticDriftandgeneticflowarenegligible没有基因漂变和基因流IfthefrequencyofthedominantalleleA（显性等位基因）inthefoundingpopulationwasp,andthefrequencyoftherecessiveallelea（隐形等位基因）wasq,thenafteronegenerationofrandommatingthegenotypefrequencieswouldremainfixedandwouldbeintheratio:

p+q=1

p2+2pq+q2=1

二、Factorscausinggenotypefrequencychanges影响遗传平衡的因素Non-randomMating非随机婚配Selection选择Mutation变异

RandomDrift基因漂变Geneflow基因流（一）非随机婚配：

1、Assortativemating(选型婚配）：positiveassortativemating（阳性选型婚配）negativeassortativemating

2、Consanguinousmating（近亲婚配）：有共同祖先血缘关系的亲属之间的婚配。

coefficientofrelationship(亲缘系数，r）istheprobabilitythatatarandomlocus,

theallelestherewillbeidenticalbydescent.近亲的程度。

Inbreedingcoefficient(近婚系数，F)istheprobabilitythattwoallelesatarandomly

chosenlocusareidenticalbydescent.子女得到一对相同基因的概率。Coefficientofrelationship(亲缘系数，r）

Parent-child（双亲-子女）first1/2Siblings（同胞）first1/2Uncle-niece（叔-侄）second1/4firstcousins（堂亲）third1/83、Inbreedingcoefficient（近婚系数）ofAutosomalinheritance（常染色体遗传）一级亲属间的近婚系数为1/4二级亲属间的近婚系数为1/8三级亲属间的近婚系数为1/164、X-linkedinheritance

因为女性有两条X染色体，所以可以形成纯合子，会受到近亲婚配的影响。男性为半合子（hemizygote)，近亲婚配不受影响。

计算X连锁基因的F值时，只计算女性F值。传递特点：男性的X连锁基因一定传给女儿，传递概率为1男性的X连锁基因不可能传给儿子，传递概率为女性的X连锁基因传给女儿和儿子的传递概率为1/2Inbreedingcoefficient（近婚系数）ofX-linked

对于X连锁基因来说：

姨表兄妹3/16舅表兄妹2/16

姑表兄妹和堂兄妹0

所以对于X连锁疾病，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还

要大，姨表兄妹近亲婚配危害最大。

近亲结婚的危害：增加隐形纯合子的频率。

（二）Factorscausinggenotypefrequencychangesnaturalselection自然选择

1、Fitness(适合度f）:theextenttowhichanorganismisadaptedtoorabletoproduceoffspringinaparticularenvironment.

是一定环境条件下，某一基因型个体能够生存并能将基因传给后代的相对能力。适合度为0时，表示遗传性致死，即无生育力，适合度为1时，为生育力正常

2、选择系数(selectioncoefficient，s)指在选择作用下适合度降低的程度，用s表示。s反映了某一基因型在群体中不利于存在的程度，s=1-f。

（三）Factorscausinggenotypefrequencychangesmutation（突变）

AchangeoftheDNAsequencewithinageneorchromosomeofanorganismresultinginthecreationofanewcharacterortraitnotfoundintheparentaltype.

Random（随机的）:withregardtofitnessaffectArareoccurrence（发生概率很小）:forasinglelocustheaveragefrequencyofmutations

isabout0.00001-0.0000001

Aweakevolutionaryforce(弱进化动力）:overtheshorttermproducesonlysmall

changesingenefrequency

突变率以每代中每一百万个基因中发生突变的次数表示（n×10-6/基因/代）

设一对等位基因A和a，A的频率为p，a的频率为q，A突变为a的突变率为u，a突变为A的突变率为v。

因此：每代中由A突变为a的数量=pu=（1－q）u由a突变为A的数量=qv

当pu=qvA和a的基因频率保持不变，群体处于遗传平衡pu>qva的基因频率增加pu

（四）Factorscausinggenotypefrequencychangesgeneticdrift（遗传漂变）geneticchangebychancealonesamplingerror

在小群体中可能出现后代的某基因比例较高，在一代代传递中基因频率明显改变，破坏了Hardy-Weinberg平衡，这种现象称为随机遗传漂变（geneticshift）。（五）Factorscausinggenotypefrequencychangesgeneflow（基因流）

Definition:themovementofindividuals(orgametes)amongpopulations.

Ifpopulationshavedifferentallelefrequenciesitwillhomogenizethefrequenciesamong

thepopulations.

群体迁移两个群体混合并相互婚配，新的等位基因进入另一群体，将导致基因频率改变，这种等位基因跨越种族或地界的渐近混合称之为基因流（geneflow）三、遗传负荷

遗传负荷是指在一个群体中，由于致死基因或有害基因的存在而使群体适合度降低的现象。遗传负荷包括突变负荷和分离负荷。

分离负荷(segregationload)是指由于杂合子（Aa）和杂合子（Aa）之间的婚配，后代中必将分离而产生一部分适合度降低的纯合子（aa），因而导致群体的适合度降低。影响因素:1.近亲婚配增加罕见隐性纯合子率，增加群体分离负荷2.环境：电离辐射化学诱变剂

四、Polymorphism多态现象

GeneticpolymorphismsaredifferentformsofaDNAsequence.Polymorphismsareatypeofgeneticdiversitywithinapopulation"sgenepool.多态是指在一个群体中，存在由遗传决定的两种或两种以上的变异型或基因型，其中频率最低的形式也远远高于依赖突变所维持的频率。对于同一基因座上的两个或两个以上的等位基因，等位基因频率至少为0.01，携带该等位基因的杂合子频率大于2%，则认为该基因座具有多态性。

DNA多态性、染色体多态性、蛋白质多态性、酶多态性、抗原多态性（一）DNApolymorphismDNA多态性

RFLP（限制性片段长度多态性）第一代遗传标记VNTR（可变数目的串联重复）第二代遗传标记SNP（单核苷酸多态）第三代遗传标记（二）Chromosomepolymorphism染色体多态性

是指正常人群中经常可见到各种染色体形态的微小变异，又称异形性heteromorphism。主要表现为同源染色体大小、形态或显带等方面的改变D组或G组的随体增大、重复或缺如Y染色体和短臂的长度次缢痕区加长或缩短

染色体着丝粒区的荧光强度变异

（三）ProteinPolymorphism蛋白质多态性

"Proteinpolymorphism"doesnotonlymeangeneticpolymorphism(aminoacidsubstitutionmainlyduetoSNPs)butalsotheonescausedbysplicing

当一种氨基酸被另一种替代就可能导致蛋白质性质的改变。（四）Enzymepolymorphism

酶多态性表现为许多酶存在同工酶的现象。

同工酶（isoenzyme）是催化相同的化学反应，而酶蛋白的分子结构、理化性质乃至免疫学性质不同的一组酶。同工酶可来自不同等位基因编码的多肽链，或由同一基因的不同转录本翻译的多肽链，或翻译后经修饰生成的多分子形式所组成的蛋白质。

酶多态性产生的原因可以分为三类同工酶

1、多座位同工酶：由不同基因座决定的同工酶。

例如乳酸脱氢酶（lactatedehydrogenase，LDH）2、复等位基因同工酶：同一座位上的不同等位基因所编码的酶蛋白。

例如胎盘碱性磷酸酶（placentalalkalinephosphatase，PLAP）3、翻译后同工酶：翻译产物经不同修饰反应产生不同分子形式的同工酶。（五）Antigenpolymorphism抗原多态性

人类遗传学应用较多的抗原有红细胞抗原系统和白细胞抗原系统。个体间抗原性差异是由基因多态产生的。

第九章人类染色体

1、Chromatin染色质

isthatportionofthecellnucleuswhichcontainsalloftheDNAofthenucleusinanimalcells.isthecomplexcombinationofDNA,RNA,andprotein.

includingeuchromatin常染色质，heterochromatin异染色质andsexchromatin性染色质性染色质是X和Y（染色体）在间期细胞核中显示出来的一种特殊结构。包括X染色质和Y染色质。

(1)Xchromatin:

InhumanoneoftheXchromosomesinfemalecellsissubjecttoinactivationearlyindevelopmentandcanbeobservedininterphasenucleiasadenselystainingbodyattheperipheryofthenucleus.Lyontheory

X-chromosomeinactivationoccurringearlyinembryogenesis;Itiscompletelyinactive;Itisrandom;

Itisirreversibleandclonallytransmitted

ThenumberofXchromatinisalwaysonelessthanthetotalnumberofXchromosomes.(2)Ychromatin:

BrilliantlyfluorescentbodyseenincellsstainedwiththedyewhichlightsuptheYchromosomemostbrightly.2、chromosome染色体

Duringcelldivision,theDNAmoleculeispackagedintothread-likestructurescalledchromosomes.

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

Humanchromosomesstructure(图书上108页)：p短臂；q长臂；centromere着丝粒；satellite随体；telomere端粒；primaryconstriction初级缢痕（主缢痕）；secondaryconstriction次级缢痕

Humanchromosomestypes:

Metacentricchromosomes:中着丝粒染色体

Submetacentricchromosomes:亚中着丝粒染色体Acrocentricchromosomes:近端着丝粒染色体Telcentricchromosomes:端着丝粒染色体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人类细胞遗传学命名的国际体制：（详见书114页图）

Thecentromere着丝粒isastandardcytological细胞学的landmarkthatdividesthechromosomeintotwoarms-P,andq.Eacharmisdividedintoregions区andtheneachregionintospecificbands带.Numberingisfromthecentromereoutwardoneacharm.Describeabandonachr.:

No.ofchr.Arm.region.band.subband描述一特定带时需写明：①染色体序号；②臂的符号；③区的序号；④带的序号。

第十章染色体畸变

1、Chromosomeaberration染色体畸变：Anytypeofchangeinthechromosomestructureor

number.

2、RelatedFactors：Chemicalfactors：drugsortoxins

Physicalfactors：ionizingradiationBiologicalfactors:virusorbiologicaltoxinsMaternalfactors：maternalage

3、Chromosomeaberration染色体畸变:

1）Chromosomenumericalaberration染色体数目畸变：①euploid整倍体改变；

②aneuploid非整倍体改变

2）Chromosomestructuralabnormalities染色体结构畸变一、Chromosomenumericalaberration染色体数目畸变

（1）euploid整倍体改变

triploid三倍体：diandry双雄受精anddigyny双雌受精

tetraploid四倍体：Endomitosis核内的有丝分裂:Chromosomalreplicationwithoutnuclear

orcellulardivisionthatresultsintetraploid.

（2）aneuploid非整倍体改变

Definition：Whenachangeinthechromosomenumberdoesnotinvolveentiresetsofchromosomes,butonlyafewofthechromosomes.Hypodiploid（亚二倍体）：Havingachromosomenumberlessthanthediploidnumber.Hyperdiploid（超二倍体）：Havingachromosomenumbermorethanthediploid

number.Typesofaneuploid

Monosomy单体型:2n-1Eg:45,XY,-21Trisomy三体型:2n+1Eg:47,XY,+21Polysomy多体型:>2n+2Eg:48,XXXXNullsomy缺体型:2n-2Eg:46,XY,-21,-21Mechanismofaneuploid

non-disjunction染色体不分离

Meiotic减数分裂non-disjunctionMitotic有丝分裂non-disjunctionchromosomelose染色体丢失

二Thetypesofstructuralabnormalities染色体结构畸变的类型deletion缺失：lossofpartofachromosome

Types:

a)TerminalDeletion末端缺失-adeletionthatoccurstowardstheendofa

chromosome.

Anfemalewithdeletionofthelongarmofchr.4band21

简式46,XX,del(4)(q21)

详式46,XX,del(4)(pter→q21:)

b)IntercalaryDeletion中间缺失-adeletionthatoccursfromtheinteriorofa

chromosome.

Anfemalewithdeletionfromthethirdbandofthefirstregiontothefifthbandofthesecondregiononthelongarmofchr.4.

简式46,XX,del(4)(q13q25)

详式46,XX,del(4)(pter→q13::q25→qter)

duplication重复：extracopiesofapartofachromosome.

Tandemduplication串联重复Reversetandemduplication反向串联重复inversion倒位：Itisachromosomerearrangementinwhichasegmentofachromosome

isreversedendtoend.

Paracentricinversions臂内倒位

Theinvertedareadonotincludethecentromereandbothbreaksoccurinonearmofthechromosome.

46,XY,inv(1)(p22p34)

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

Pericentricinversions臂间倒位

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罗伯逊易位：Itisaparticulartypeoftranslocationinvolvingthereciprocaltransferofthelongarmsoftwooftheacrocentricchromosomes:13,14,15,21or22.

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

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

ringchromosome环状染色体：Aringchromosomeisachromosomewhosearms

havefusedtogethertoformaring.

46,XX,r(2)(p21q31)46,XX,r(2)(p21→q31)

dicentricchromosome双着丝粒染色体Dicentricchromosomeisanaberrant

chromosomehavingtwocentromeres

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

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

isochromosome等臂染色体：Anisochromosomeisachromosomethathaslostoneof

itsarmsandreplaceditwithanexactcopyoftheotherarm.

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

insertion插入：Aninsertionreferstotheinsertionofalargersequenceintoa

chromosome.

第十一章单基因遗传病

1、Somedisordersresultwhenamutationcausestheproductofasinglegenetobealteredormissing.ThesedisordersarecalledSingleGeneDisorder.2、单基因遗传病可分为：

1)moleculardiseases（分子病）：Alterationsinstructure,functionorquantityofnonenzymeproteinsa)Hemoglobinopathies血红蛋白病b)Plasmaproteindisease血浆蛋白病c)Disordersofcollagen胶原蛋白病d)Receptorproteindisease受体蛋白病

2)Inbornerrorsofmetabolism（先天性代谢缺陷）：Enzymedefectsandtheirconsequences※3、Hemoglobinopathies:

Abnormalhemoglobins:异常血红蛋白（名解）：hemoglobins:mutationscausing

qualitativeabnormalitiesinhaemoglobins，forexamplesicklecellanemia.Thalassemia:地中海贫血（名解）：mutationscausingquantitativeabnormalitiesin

haemoglobins.

α-Thalassemiaβ-Thalassemia

Hemoglobinopathies血红蛋白病

1、Globinchainincludingsixkinds：

α,β,Gγ；Aγ,δ[`delt],ε[ep`sail],δ[ksai].Constitutionofhemoglobin：血红蛋白结构

Apairofsimilarαchains(αorδchain，141AA)

Apairofsimilarβchains(β,γ,δorεchain，146AA）2、发育阶段血红蛋白分子组成

胎儿F2G22A2成人A(95%以上)22

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

βglobingenecluster类β珠蛋白位于6gene11p15发育阶段特异性

5’3’顺次表达、关闭

合成场所特异性

卵黄囊；胎儿肝、脾；骨髓

表达数量协调性

类α、类β链维持1：1的比例

总之，珠蛋白基因的表达具有时空特异性、精确的协调性※4、（名解+分类）MainTypesofHemoglobinopathiesGeneMutation:

Pointmutation（点突变）:MissenseMutation错义突变NonsenseMutation无义突变

TerminationCodonMutation终止密码子突变

FrameshiftMutation移码突变

Codendeletionorinsertion密码子的缺失和嵌入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终止密码（142）

2.FrameshiftMutation

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