讲稿遗传8染色体病.pptxVIP

Chapter 8Human chromosome chromosome disordersProf. Ming-min GU776416 gumm@sjtu.edu.cnFrom DNA to ChromosomeHuman chromosome chromosome disordersPreparation of human chromosomeMorphology of human chromosomeChromosome aberrations (畸变)Autosome disordersGonosome disordersHermaphroditism (两性畸形)Preparation of human chromosomeMaterialsPeripheral blood lymphocytes (PBL)Bone-marrow cells (骨髓细胞) (divided cells)Amniotic fluid cells (羊水细胞) (undivided cells)Chorionic villus cells (绒毛细胞) (divided cells)Skin fibroblasts (皮肤成纤维细胞)Cancer cells (divided cells)Fetal lymphocytes into the maternal circulation (1/5 000-1/20 000) (undivided cells)Preparation of human chromosomePeripheral blood lymphocytes (PBL)(Phytohemagglutinin)(Colchicine or colcemid )庄有兴(Hypotonic treatment)徐道觉Staining methods:1)Solid staining (non-banding method)2)Differential stained (banding method)Key StepsPreparation of human chromosomeAnalyze metaphase spreadKaryotypePeripheral blood lymphocytes (PBL)Digest with trypsin stain with GiemsaThree Key StepsPhytohemagglutinin (PHA)Colchicine or colcemidHypotonic salinePhytohemagglutininCulture mediumSpread cells ontoSlide by droppingCulture at 37 ℃For 3 daysColchicine or colcemidHypotonic saline Cells fixedMorphology of Human ChromosomeSolid staining (non-banding method): The air-dried slide is directly stained with Giemsa stain. Each chromosome appears to be homogeneously stained X-shaped solid structure.Differential staining (banding method): The air-dried slide is stained directly with Giemsa stain after various pretreatmentsMorphology of Human chromosomeChromatid （染色单体）Centromere （着丝粒）Short arm = pLong arm = qSatellite （随体）Secondary constriction（次级缢痕）Telomere （端粒）(TTAGGG)n n=2-3×104CentromereMorphology of Human chromosomeChromatid （染色单体）Centromere （着丝粒）Short arm = p (petit)Long arm = qSatellite （随体）Secondary constriction（次级缢痕）Telomere （端粒）(TTAGGG)n n=2-3×104The Nobel Prize in Physiology or Medicine 2009for the discovery of how chromosomes are prote