《医学遗传学》第四章 人类染色体与染色体病

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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;130:723-724Hyp

2、otonicPeriodDarkAgesTrisomyPeriodLejeuneJ,etal.Etudedeschromosomessomatiquesdeneufenfantsmongoliens.G.R.Acad.Sciences.1959;248:1721-1722FordCE,etal.Asexchromosomalanomalyinacaseofgonadaldysgenesis(Turner'ssyndrome).Lancet.1959;1:711-713JacobPA,etal.Acaseofhumaninters

3、exualityhavingapossibleXXYsexdeterminingmechanism.Nature.1959;183:302-303.HypotonicPeriodDarkAgesBandingEraCasperssonT,etal.Differentialbandingofalkylatingfluorochromesinhumanchromosomes.ExpCellRes.1970;60:315-319HypotonicPeriodDarkAgesTrisomyPeriodMolecularEraPardue

4、ML,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.HypotonicPeriod

5、DarkAgesBandingEraTrisomyPeriodDenverSystemThekaryotypeisaphotographofallofthechromosomesofanindividualcell;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。Chromosomecanbedistinguishedbytherelativesizesandthepositi

6、onofthecentromere.Metacentric(1,3,16,19,20)Submetacentric(2,4-12,17,18,X)Acrocentric(13,14,15,21,22,Y)DenverSystemKaryotypeanalysis:arrangingthechromosomesofacellintoakaryotype,thenanalysisandcomparewithDenversystem.DenverSystemThekaryotypeisaphotographofallofthechro

7、mosomesofanindividualcell;thetermcoversthenumber,relativesizesandstructureofthechromosomes.DenverSystemBandingPatternBand（带）:treatedwithchemicaldyes,thechromosomewillappearasaseriesofalternatedarkandlightstriations.Bandingpattern（带型）：treatedwithchemicaldyes,24typesof

8、chromosomesappearitsuniquestriationsindividually.Q-banding：QMBandingPatternBand:treatedwithchemicaldyes,thechromosomewillappearasas