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1、选择题1.AccordancetotheISCNsystemstandards,onthe10thchromosome,thelongarm,2region,5bandand3sub-bandshouldbeexpressedas:A.10p25.3B.10q25.3C.10p2.53D.10q2.53E.10q2532.Atpresent,themostcommonlyusedclinical-bandingtechnique(显带技术)is:A.Qband B.Gband C.Cband D.Tband E.Nband
2、3.InKnudson's"secondmutationhypothesis“,thefirstmutationofnon-hereditarytumorsoccurin:A.SpermB.EggC.ZygoteD.SomaticE.Germcell4.Ifacertainindividualkaryotype46,XX/47,XX,+18indicatesthattheindividualis:A.AutosomalstructuralabnormalitiesB.Thenumberofabnormalautosomalmosai
3、cismC.SexchromosomeabnormalitiesD.ThenumberofabnormalsexchromosomemosaicismE.Structuralabnormalityofchromosomemosaicism5.Congenitalovariandysgenesis(Turnersyndrome)isthemostcommonkaryotypeisA.45,X B.47,XXY C.47,XYY D.47,XXX E.46,YY6.Phchromosomestructure:A.22q+B.22q-C.
4、9q+D.9q-E.t(9;22)(q34;q11)7.Somaticchromosomenumberof47,referredtoas:A.Monosomy(单体型)B.Triploid(三倍体)C.Haploid(单倍体)D.Trisomy(三体型)E.Hypodiploid(多倍体)8.sickle-cellanemiamutationapproachis:A.GAG→GGGB.GAG→GTGC.GAG→GCGD.GAG→GATE.GAG→TAG9.thegenotypeofHbBart’sfetaledemasyndrome
5、(胎儿水肿综合症)is:A.αα/ααB.––/α–C.––/αα或–α/–αD.–α/ααE.––/––10.Globinchainsaresynthesizedvelocityanomaly:A.methemoglobinemia(高铁血红蛋白症)B.sicklecellanaemia(镰状细胞贫)C.betaThalassemia(β地中海贫血)D.familialhypercholesterolemia(家族性高胆固醇血症)E.unstablehemoglobinopathy(不稳定血红蛋白病)1-5BBCBA6-10EDB
6、EC名词1.moleculardisease(分子病)指基因突变使蛋白质分子结构或合成的量异常直接引起机体功能障碍的一类疾病,包括血红蛋白病,血浆蛋白病,受体病,膜转运蛋白病,结构蛋白缺陷病。Referstothegeneticmutationthatproteinsynthesisofmolecularstructureortheamountofthedirectcausesofairframefunctionobstacleabnormalkindofdiseases,includinghemoglobindisease,pla
7、smaproteindisease,receptordisease,membranetransportersdisease,structureproteindefectdisease.2.karyotype(核型)一个体细胞中的全部染色体,按其大小,形态特征顺序排列所构成的图像称为核型。Asomaticchromosome,alltheaccordingtoitssize,morphologysequencethatformtheimagecalledkaryotype.填空1.Humanchromosomeaberrations,
8、includingtwomajorcategoriesof_numerical_aberration_and_structuralaberration_2.Thenumberofhumanchromosomeaberrationtyp