8人类染色体与染色体病.pdf

Chapter 8 Human chromosome chromosome disorders 人类染色体和染色体病 Human chromosome chromosome disorders Morphology of human chromosome Chromosome aberrations Autosome disorders Gonosome disorders Chromosome microdeletion syndromes Hermaphroditism(两性畸形) Materials Peripheral blood lymphocytes (PBL) Bone-marrow cells (divided cells) Amniotic fluid cells (undivided cells) Chorionic villus cells (divided cells) Skin fibroblasts (undivided cells) Cancer cells (divided cells) 进入母体循环的胎儿淋巴细胞 (1/5 000-1/20 000) (undivided cells) Preparation of human chromosome (Phytohemagglutinin) (Colchicine or colcemid ) (Hypotonic treatment) Staining methods: 1) Solid staining (non-banding method) Morphology of Human chromosome Differential staining Solid staining (non-banding (banding method): The air- method): The air-dried slide is dried slide is stained directly directly stained with Giemsa stain. with Giemsa stain after various Each chromosome appears to be pretreatments homogeneously stained X-shaped solid structure. Morphology of Human chromosome Chromatid （染色单 体） Centromere （着丝粒） Short arm = p Long arm = q Satellite （随体） Secondary constriction （次级缢痕） Telomere （端粒） 4 (TTAGGG)n n=2-3 ×10 The Nobel Prize in Physiology or Medicine 2009 for the discovery of how chromosomes are protected by telomeres and the enzyme telomerase Elizabeth H. Blackburn Carol W. Greider Jack W. Szostak University of California Johns Hopkins Harvard Medical School; San Francisco, CA, University Schoo