第四章人类染色体与染色体病要点.ppt

第四章 人类染色体和染色体病 Painter TS. Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J Exp Zool. 1923; 37: 291-336 Dark Ages 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 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 (Turners 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 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 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. 核型：一个体细胞中的全部染色体，按其大 小、形态特征顺序排列所构成的图像。 Chromosome can be distinguished by the relative sizes and the position of the centromere. 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 Banding Pattern Band（带）: treated with chemical dyes, the chromoso