医学遗传学Chromosomal Disoders.pptxVIP

;通知;1. Chromatin and chromosome;Chromatin composition;From Chromatin to Chromosome;Chromosome Preparation ;;2. Chromosome identification;Metacentric Ch. CI: 1/2～5/8 ;International System for Human Cytogenetic Nomenclature ISCN, Denver;Sex Ch.;2. Banding of chromosome;Giemsa bands: Trypsin digestion Giemsa staining Permanent Dark and light bands ;Reversed bands: Heated, KOH Giemsa staining Permanent Dark and light bands reversed to G bands;Heated, KOH Giemsa staining Heterochromatin in the centromeres, long arm of the Y and 1qh , 9qh and 16qh; Nomenclature of human chromosome ;Chromosomes in different stages of phases of cell cycle More detailed analysis;Fluorescence In Situ Hybridization （FISH）;Rapid mapping of genes and sequences in chromosome Detecting small fragment in interphase. Detecting cryptic rearrangements or small deletions – Banding could not be detected 4Mb;Fragile Sites;Lable test DNA with green;CGH ;Array CGH，aCGH ;Euploid ;arr (12)(pter-qter)×1, -12;3. Chromosome abnormalities ;A. Euploidy:Monoploidy and Polyploidy;Triploidy;13-green, 21-red;Pat. diploidy; Loss or gain of chromosomes (not multiple of a haploidy) Monosomy 2n-1: one instead of a pair of homologous chromosomes Trisomy 2n+1: three instead of a pair of homologous chromosomes ;;a. Monosomy;Typical Turner’s syndrome;b. Trisomy