中国医科大学七年制遗传重点

98期七年制《HumanDevelopmentandGenetics》madeby98k73b题型：1.单选题20题，每题1分，共20题单项选择题（只有一个答案），比较简单2.填空题20空，每空0.5分，共10分E.g.非整倍体形成的原因________,________遗传异质性包括________、多基因病的几条需要背会一级亲属发病率计算从ppt上找原话填空3.概念题10题，每题2分，共20分每章重点单体型的概念4.简答题4题，每题5分，共20分基因治疗的策略、Lyon假说的5.综合分析题3题，每题6、6、8分，共20分e.g.间接基因诊断的方法（pku\血友病）、系谱分析（给描述画图\给系谱让你分析）（分析遗传类型、为什么是这种遗传类型、写基因型、算发病率、）用所学过的知识解释某个现象，镰状细胞贫血，设计实验方案找出变异，甲和乙都是聋哑但后代没有解释为什么，肿瘤二次突变（视网膜母细胞瘤为什么又遗传性和非遗传型），结肠息肉到结肠癌（多阶段多步骤））6.整合分析题1题，每题10分，共10分染色体病——遗传学、生殖内分泌、胚胎发育三个角度解释这种症状Chapter1头两个很重要Definition:medicalgenetics,geneticdisorder医学遗传学（概率大）遗传病Characteristicsandclassificationofgeneticdisorders分几类每一类要能写出几种病Landmarksinmedicalgenetics选择题知道名字比较重要的AimofHumanGenomeProject填空题基因组测序的两种技术的名字Twogenome-sequencingstrategiesImportanteventsinHGPChinaContributiontoHGPChapter2第一页ppt考点多Definition:gene,genome,genefamily,pseudogene,splitgene,GT-AGrule,flankingsequence,cis-actingelement,trans-actingelement,mutation,frameshiftmutation,dynamicmutation,probe,recombinantDNA,vector,DNAlibraryClassificationofchromatinX-chromatinandY-chromatine.g.XY都在哪内缘、里面怎么检测几个X几个YX兼性异染色质（易考X）RegulationmechanismofepigeneticsChapter2第二页pptNucleargenomeandmitochondrialgenomeBasicstructureofDNAanditsbiologicalsignificanceClassificationofrepetitivesequenceCharacteristicofeukaryoticstructuralgeneRNAprocessingTypesofgenemutationMethodsofprobelabelingSouthernBlotting,NorthernBlotting,ASO真核生物结构基因的特点（简答）DNA结构特征和生物学意义（简答）基因突变的类型探针标记有一年考过简答方法Southern等技术考名字Chapter2第三页pptRestrictionendonuclease:nomenclature,recognitionsequence,restrictionfragmentsCharacteristicofvectorandcommoncloningvectorFouressentialstepsofcell-basedDNAcloningMaintypesofDNAlibraryPCR:principle,steps,reactionsystem,application,advantageanddisadvantagePrincipleofSangersequencing载体片段的长度谁大谁小大的用谁小的用谁细胞DNA克隆四步选择题考顺序DNA文库的主要类型基因组文库和cDNA文库PCR是给案例考方法测序的原理Chapter3Definition:meiosis,Homologouschromosome,SynapsisGeneticaffairsinMeiosisISignificanceofMeiosisSpermatogenesisandoogenesis减数分裂所发生的遗传事件和细胞遗传学基础相当于减数分裂的意义和I期的重要遗传事件第六章生殖内分泌两个概念都考Definition:Decidua,Disorderofsexdevelopment(DSD)FetalMembranesPlacenta:Development,component,circulation,functionandanomalySourcesofAmnioticFluidChromosomalbasisofsexdeterminationEmbryologyofthereproductivesystemCommontypesofdisordersofsexdevelopmentChapter7重点看Definition:karyotype,Robertsoniantranslocation,X-chromation,Y-chromatin,markerchromosomeChromosomemorphologyandChromosomebandingChromosomenomenclatureandkaryotypedescriptionFISHanditsprobesEuploidy(triploidandtetraploid)andaneuploidyStructuralabnormality:symbolsandabbreviationsAutosomalchromosomedisorders(Downsyndrome,Edwardssyndrome,Patausyndrome,CriduChatsyndrome):names,clinicalfeatures,karyotypesSexchromosomedisorders(KlinefelterSyndrome,TurnerSyndrome,FragileXSyndrome):names,clinicalfeatures,karyotypesLyonhypothesis:Keypointsandexceptions结构异常知道符号都代表什么意思数目异常产生的原因整倍体非整倍体产生的原因染色体21三体性染色体综合征——clinyfea和Turner综合征年年都考知道临床表现、核型分类、嵌合型怎么诊断、（做核型分析）Leon假说简答题第八章Definition:single-genedisorders,locus,alleles,homozygote,heterozygote,compoundheterozygote,doubleheterozygote,genotype,phenotype,pedigree,proband,codominance,multipleallele,penetrance,variableexpressivity,geneticimprinting,anticipation,carrier,consanguinity,coefficientofrelationship,geneticheterogeneity,crossinheritance,hemizygote,holandricinheritance,functionalcloning,positionalcloningPedigreeanalysisFeaturesofAD,AR,XRandXDinheritanceAtypicalpatternsofADinheritanceABObloodgroupReasonsforirregulardominanceDelayeddominance,anticipation,geneticimprintinganddynamicmutationConsanguineousmatingTypesofgeneticheterogeneity系谱分析最容易考显性遗传病种类填空延迟显性、动态突变、早现遗传、遗传印记密不可分不规则显性的原因遗传异质性概念常隐近亲婚配亲缘系数算发病率第九章Definition:1.Moleculardisease：diseasecausedbyabnormalityofproteinquantityorproteinqualityduetogenemutation.分子病是基因突变导致蛋白质分子质和量差异，从而引起机体功能障碍的一类疾病。2.Hemoglobinpathy：diseasecausedbyabnormalityofglobinstructureorsyntheticquantityduetogenemutationordeletion.——disordersofthestructureorsynthesisofhemoglobin(Hb)血红蛋白病是指由于珠蛋白分子结构或合成量异常所引起的疾病。3.abnormalhemoglobinpathy：structuraldisordersofhemoglobin(Hb)duetomutationofglobingene.异常血红蛋白病：是指由于珠蛋白基因突变导致珠蛋白肽链结构异常。4.thalassemia：diseasesofhemoglobinsynthesisinwhichmutationsreducethesynthesisorstabilityofeithertheα-chainorβ-chain,resultinginimbalanceintheratiooftheα:βchainsandhemolyticanemia地中海贫血，由于珠蛋白基因缺失或突变导致某种珠蛋白的链合成障碍，造成α链和β链合成失去平衡而导致的溶血性贫血。Types,developmentalexpressionandgeneticcontrolofhemoglobin1.Types:见下图2.developmentalexpression:3.geneticcontrol：Molecularbasisofabnormalhemoglobinpathy异常血红蛋白的分子基础1.Individualbasesubstitution单个碱基置换2.Frameshiftmutation移码突变3.Insertionanddeletionofcodon密码子的缺失和插入4.Fusiongene融合基因**Typesandclinicalfeaturesof-thalassemiaSilent静止型-thalassemia，-geneMild轻型-thalassemia，-geneHbH血红蛋白H病，-geneHbBart’shydropsfetalissyndromeHbBart’s胎儿水肿综合征，delete4-gene**Molecularbasisof-thalassemia地中海贫血的分子基础1.Codingregionmutation编码区突变2.Non-codingregionmutation非编码区突变3.Promoterregionmutation启动子区突变4.RNAcleavagesignalmutationRNA裂解信号突变5.Capsitemutation加帽位点单个碱基突变Inbornerrorsofmetabolism:names,enzymes,inheritpatternDiseaseEnzymeinheritanceaminoacid