资源描述：
《医学遗传学第四章人类染色体与染色体病ppt课件.ppt》由会员上传分享，免费在线阅读，更多相关内容在教育资源-天天文库。
1、第四章人类染色体和染色体病1PainterTS.Studiesinmammalianspermatogenesis.II.Thespermatogenesisofman.JExpZool.1923;37:291-336DarkAges2HsuTC.Mammalianchromosomesinvitro.I.Thekaryotypeofman.JHered.1952;43:167-172TjioJH,LevanA.Thechromosomenumberofman.AmJObstetGynecol.
2、1956;130:723-724HypotonicPeriodDarkAges3TrisomyPeriodLejeuneJ,etal.Etudedeschromosomessomatiquesdeneufenfantsmongoliens.G.R.Acad.Sciences.1959;248:1721-1722FordCE,etal.Asexchromosomalanomalyinacaseofgonadaldysgenesis(Turner'ssyndrome).Lancet.1959;1:7
3、11-713JacobPA,etal.AcaseofhumanintersexualityhavingapossibleXXYsexdeterminingmechanism.Nature.1959;183:302-303.HypotonicPeriodDarkAges4BandingEraCasperssonT,etal.Differentialbandingofalkylatingfluorochromesinhumanchromosomes.ExpCellRes.1970;60:315-31
4、9HypotonicPeriodDarkAgesTrisomyPeriod5MolecularEraPardueML,etal.MolecularhybridizationofradioactiveDNAtotheDNAofcytologicalpreparations.Proc.Natl.Acad.Sci.USA.1969;64:600-604PinkelD,etal.Cytogeneticanalysisusingquantitative,high-sensitivity,fluoresce
5、ncehybridization.Proc.Natl.Acad.Sci.USA.1986;83:2934-2938.HypotonicPeriodDarkAgesBandingEraTrisomyPeriod6DenverSystemThekaryotypeisaphotographofallofthechromosomesofanindividualcell;thetermcoversthenumber,relativesizesandstructureofthechromosomes.核型：
6、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。7Chromosomecanbedistinguishedbytherelativesizesandthepositionofthecentromere.Metacentric(1,3,16,19,20)Submetacentric(2,4-12,17,18,X)Acrocentric(13,14,15,21,22,Y)DenverSystem8Karyotypeanalysis:arrangingthechromosomesof
7、acellintoakaryotype,thenanalysisandcomparewithDenversystem.DenverSystemThekaryotypeisaphotographofallofthechromosomesofanindividualcell;thetermcoversthenumber,relativesizesandstructureofthechromosomes.9DenverSystem10BandingPatternBand（带）:treatedwithc
8、hemicaldyes,thechromosomewillappearasaseriesofalternatedarkandlightstriations.Bandingpattern（带型）：treatedwithchemicaldyes,24typesofchromosomesappearitsuniquestriationsindividually.11Q-banding：QMBandingPatternBand:treatedwithchemicaldyes,thechromosomew
