医学遗传学人类染色体与染色体病.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;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 ;Trisomy Period;Banding Era;Molecular Era;Denver System;Chromosome can be distinguished by the relative sizes and the position of the centromere. ;Karyotype analysis: arranging the chromosomes of a cell into a karyotype, then analysis and compare with Denver system.;;Banding Pattern;Q-banding：QM;医学遗传学人类染色体与染色体病;Q-banding：QM;医学遗传学人类染色体与染色体病;R-banding：treated specimen＋Giemsa or Acridine Orange ;医学遗传学人类染色体与染色体病;医学遗传学人类染色体与染色体病;C-banding：Y chromosome, centromere, secondary constriction;医学遗传学人类染色体与染色体病;医学遗传学人类染色体与染色体病;T-banding：ending of chromosome;医学遗传学人类染色体与染色体病;N-banding：AgNO3＋Giemsa, NOR;医学遗传学人类染色体与染色体病;Landmark;Development;医学遗传学人类染色体与染色体病; FISH (fluorescence in situ hybridization);FISH;FISH;FISH;X染色体; FISH (fluorescence in situ hybridization);DNA fiber-FISH; FISH (fluorescence in situ hybridization);;Chromosome Painting;Chromosome Painting; FISH (fluorescence in situ hybridization);CGH;CGH;CGH; Advantages;Heteromorphism;Heteromorphism;Chromosomal Aberration;Numerical Abnormality;Numerical Abnormality;整倍体;Numerical Abnormality;?双雄受精: fertilization of 1 oocyte by 2 spermatozoa ;整倍体——多倍体;核内复制; Diplochromosome;Be found more commonly than Euploid(整倍体);单体型: is the presence of only one copy of any chromosome;Be found more commonly than Monosomy;Meiotic (减数分裂) non-disjunction;Meiosis in animals.;Meiotic Non-Disjunction;Meiotic Non-Disjunction;Primary non-disjunction;Meiotic Non-Disjunction;Meiotic non-disjunction;Mitosis in animal cells.;Mitotic Non-Disjunction;Meiotic non-disjunction;The causality where a chromosome is missing from the new cell created via cell division.;The Breakage and the Rejoin after breakage are the basis of chromosomal structural aberration.;