《医学遗传学》课程PPT教学课件（留学生 Medical Genetics）05 Chromosome Disease

The Fifth Chapter Chromosome Disease

The Fifth Chapter Chromosome Disease

Contents Denver System Karyotype analysis Chromosome Abnormality Mechanism Chromosome Disease in Clinical Disjunction of balancing chromosome

Contents ➢ Denver System & Karyotype analysis ➢ Chromosome Abnormality & Mechanism ➢ Chromosome Disease in Clinical ➢ Disjunction of balancing chromosome

Denver System Karyotype analysis Dark Ages Painter TS.Studies in mammalian spermatogenesis.Il.The spermatogenesis of man.JExp Zool.1923;37:291-336

◆ Painter TS. Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J Exp Zool. 1923; 37: 291-336 ➢ Dark Ages Denver System & Karyotype analysis

Denver System Karyotype analysis Dark Ages Hypotonic Period Hsu TC.Mammalian chromosomes in vitro.I.The karyotype of man.JHered.1952;43:167-172 Tjio JH,Levan A.The chromosome number of man.Am J Obstet Gynecol.1956;130:723-724

◆ Hsu TC. Mammalian chromosomes in vitro. I. The karyotype of man. J Hered. 1952; 43: 167-172 ◆ Tjio JH, Levan A. The chromosome number of man. Am J Obstet Gynecol. 1956; 130: 723-724 ➢ Hypotonic Period ➢ Dark Ages Denver System & Karyotype analysis

Denver System Karyotype analysis Dark Ages Hypotonic Period Trisomy Period Lejeune J,et al.Etude des chromosomes somatiques de neuf enfants mongoliens.G.R.Acad.Sciences.1959;248: 1721-1722. Ford CE,et al.A sex chromosomal anomaly in a case of gonadal dysgenesis(Turner's syndrome).Lancet.1959;1: 711-713. Jacob PA,et al.A case of human intersexuality having a possible XXY sex determining mechanism.Nature.1959;183: 302-303

➢ Trisomy Period ◆ Lejeune J, et al. Etude des chromosomes somatiquesde neuf enfants mongoliens. G. R. Acad. Sciences. 1959; 248: 1721-1722. ◆ Ford CE, et al. A sex chromosomal anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet. 1959; 1: 711-713. ◆ Jacob PA, et al. A case of human intersexuality having a possible XXY sex determining mechanism. Nature. 1959; 183: 302-303. ➢ Hypotonic Period ➢ Dark Ages Denver System & Karyotype analysis

Denver System Karyotype analysis Dark Ages Hypotonic Period Trisomy Period >Banding Era Caspersson T,et al.Differential banding of alkylating fluorochromes in human chromosomes.Exp Cell Res.1970; 60:315-319

➢ Banding Era ◆ Caspersson T, et al. Differential banding of alkylating fluorochromes in human chromosomes.Exp Cell Res. 1970; 60: 315-319 ➢ Trisomy Period ➢ Hypotonic Period ➢ Dark Ages Denver System & Karyotype analysis

Denver System Karyotype analysis Dark Ages Hypotonic Period Trisomy Period >Banding Era Molecular Era Pardue ML,et al.Molecular hybridization of radioactive DNA to the DNA of cytological preparations.Proc.Natl.Acad.Sci.USA. 1969;64:600-604 Pinkel D,et al.Cytogenetic analysis using quantitative,high- sensitivity,fluorescence hybridization.Proc.Natl.Acad.Sci. US4.1986;83:2934-2938

➢ Molecular Era ◆ Pardue ML, et al. Molecular hybridization ofradioactive DNA to the DNA of cytological preparations. Proc. Natl. Acad. Sci. USA. 1969; 64: 600 - 604 ◆ Pinkel D, et al. Cytogenetic analysis using quantitative, high￾sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA. 1986; 83: 2934-2938. ➢ Banding Era ➢ Trisomy Period ➢ Hypotonic Period ➢ Dark Ages Denver System & Karyotype analysis

Denver System Karyotype analysis Denver System The karyotype is a photograph of all of the chromosomes of an individual cell;the term covers the number,relative sizes and structure of the chromosomes

➢ Denver System The karyotype is a photograph of all of the chromosomes of an individual cell; the term covers the number, relative sizes and structure of the chromosomes. Denver System & Karyotype analysis

Denver System Chromosome can be distinguished by the relative sizes and the position of the centromere. 13 Metacentric Submetacentric Acrocentric (1,3,16,19,20) (2,4-12,17,18,X) (13,14,15,21,22,Y

➢ Chromosome can be distinguished by the relative sizes and the position of the centromere. Metacentric (1, 3, 16, 19, 20) Submetacentric (2, 4-12, 17, 18, X) Acrocentric (13, 14, 15, 21, 22, Y) Denver System

Denver System The karyotype is a photograph of all of the chromosomes of an individual cell;the term covers the number,relative sizes and structure of the chromosomes. Karyotype analysis:arranging the chromosomes of a cell into a karyotype,then analysis and compare with Denver system

Karyotype analysis: arranging the chromosomes of a cell into a karyotype, then analysis and compare with Denver system. Denver System The karyotype is a photograph of all of the chromosomes of an individual cell; the term covers the number, relative sizes and structure of the chromosomes