《医学遗传学 Medical Genetics》课程PPT教学课件（英文版）Chromosome Disease

Medical Genetics Chromosome disease

Chromosome Disease Medical Genetics

Dark ages Painter Ts. Studies in mammalian spermatogenesis. II The spermatogenesis of man.J Exp 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

Dark ages Hypotonic Period Hsu TC. mammalian chromosomes in vitro. I. The karyotype of man. )Hered. 1952; 43: 167-172 Tjio H Levan A. The chromosome number of man Am 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

Dark ages Hypotonic Period Trisomy Period Lejeune et al. Etude des chromosomes somatiques de neuf enfants mongolians. 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 ACOB PA et al. A case of human intersexuality having a possible XxY sex determining mechanism Nature.1959183:302-303

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. Hypotonic Period Dark Ages

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 Hypotonic Period Dark Ages Trisomy Period

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.uSA.1986;83:2934-2938

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. USA. 1986; 83: 2934-2938. Hypotonic Period Dark Ages Banding Era Trisomy Period

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

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

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 》x(晶 日y 非);2t

Denver System

Banding pattern Band: treated with chemical dves, the chromosome will appear as a series of alternate dark and light striations Banding pattern: treated with chemical dyes, 24 types of chromosomes appear its unique striations individuall

Banding Pattern Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations. Banding pattern：treated with chemical dyes, 24 types of chromosomes appear its unique striations individually