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1、第四章人类染色体和染色体病PainterTS.Studiesinmammalianspermatogenesis.II.Thespermatogenesisofman.JExpZool.1923;37:291-336DarkAgesHsuTC.Mammalianchromosomesinvitro.I.Thekaryotypeofman.JHered.1952;43:167-172TjioJH,LevanA.Thechromosomenumberofman.AmJObstetGynecol.1956;130:723-724H
2、ypotonicPeriodDarkAgesTrisomyPeriodLejeuneJ,etal.Etudedeschromosomessomatiquesdeneufenfantsmongoliens.G.R.Acad.Sciences.1959;248:1721-1722FordCE,etal.Asexchromosomalanomalyinacaseofgonadaldysgenesis(Turner'ssyndrome).Lancet.1959;1:711-713JacobPA,etal.Acaseofhumanin
3、tersexualityhavingapossibleXXYsexdeterminingmechanism.Nature.1959;183:302-303.HypotonicPeriodDarkAgesBandingEraCasperssonT,etal.Differentialbandingofalkylatingfluorochromesinhumanchromosomes.ExpCellRes.1970;60:315-319HypotonicPeriodDarkAgesTrisomyPeriodMolecularEra
4、PardueML,etal.MolecularhybridizationofradioactiveDNAtotheDNAofcytologicalpreparations.Proc.Natl.Acad.Sci.USA.1969;64:600-604PinkelD,etal.Cytogeneticanalysisusingquantitative,high-sensitivity,fluorescencehybridization.Proc.Natl.Acad.Sci.USA.1986;83:2934-2938.Hypoton
5、icPeriodDarkAgesBandingEraTrisomyPeriodDenverSystemThekaryotypeisaphotographofallofthechromosomesofanindividualcell;thetermcoversthenumber,relativesizesandstructureofthechromosomes.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。Chromosomecanbedistinguishedbytherelativesizesan
6、dthepositionofthecentromere.Metacentric(1,3,16,19,20)Submetacentric(2,4-12,17,18,X)Acrocentric(13,14,15,21,22,Y)DenverSystemKaryotypeanalysis:arrangingthechromosomesofacellintoakaryotype,thenanalysisandcomparewithDenversystem.DenverSystemThekaryotypeisaphotographof
7、allofthechromosomesofanindividualcell;thetermcoversthenumber,relativesizesandstructureofthechromosomes.DenverSystemBandingPatternBand(带):treatedwithchemicaldyes,thechromosomewillappearasaseriesofalternatedarkandlightstriations.Bandingpattern(带型):treatedwithchemical
8、dyes,24typesofchromosomesappearitsuniquestriationsindividually.Q-banding:QMBandingPatternBand:treatedwithchemicaldyes,thechromosomewillappearasas