人類染色體的正常核型

1、一、染色質(zhì)一、染色質(zhì) chromatin二、染色體二、染色體 chromosome三、人類染色體的正常核型三、人類染色體的正常核型 the normal human karyotype 四、染色體的多態(tài)性四、染色體的多態(tài)性 chromosome polymorphism第二節(jié)第二節(jié) 遺傳的細(xì)胞基礎(chǔ)遺傳的細(xì)胞基礎(chǔ)Cellular Basis of Inheritance(一)染色質(zhì)的分子結(jié)構(gòu) chromatin structure(二)常染色質(zhì)和異染色質(zhì) euchromatin and heterochromatin(三)性染色質(zhì) (sex chromatin) X chromatin Y ch

2、romatinChromatin一、染色質(zhì)（1）Chromatin一、染色質(zhì)（2）1 Chemical components of chromatin: DNA、protein、a little of RNA2 Higher levels of chromatin structure: Four levels of DNA packingChromatin一、染色質(zhì)（3）30 nm chromatin fiber of packed nucleosomes.Section of chromosome in an extended formChromatid“Beads-on-a-string”

3、 form of chromatin.Higher levels of chromatin structure: Four levels of DNA packingCellHistonesDNAChromatin一、染色質(zhì)（4）核小體/nucleosomeChromatin一、染色質(zhì)（5） DNAnucleosomeChromatid764058400Chromatin一、染色質(zhì)（6）30 nm chromatin fiber of packed nucleosomes.Section of chromosome in an extended forml染色質(zhì) chromatinInterp

4、hase。l染色體 chromosomeM phaseChromatin一、染色質(zhì)（7）l常染色質(zhì)(heterochromatin)和異染色質(zhì)(euchromatin )leuchromatin: active, less compact。Heteromatin: repressed, concentrated 。heterochromatineuchromatinChromatin一、染色質(zhì)（8） 1949，BarrBarr bodyX bodyChromatin一、染色質(zhì)（9）X染色質(zhì)(X chromatin)：female, interphase, 1m body, heterochro

5、matinChromatin一、染色質(zhì)（10）1961年，Lyon X 染色體失活假說 (Lyon hypothesis)：only one of the two X-chromosomes is genetically active in female cells. The inactive X chromosome is silenced by packaging into transcriptionally inactive heterochromatin The choice of which X chromosome will be inactivated is random in

6、placental mammals such as mice and humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell. Chromatin一、染色質(zhì)（11）Dosage compensation effect劑量補(bǔ)償效應(yīng) Y染色質(zhì)(Y chromatin)：maleinterphase 0.3 m body, Q-bright region of Y chromosomeChromatin一、染色質(zhì)（12）structure;:

7、 短臂 p 長臂 q 著絲粒 centromere 主縊痕 primary constriction 端粒 telomere 次縊痕secondary constriction 隨體 satellite二、染色體二、染色體(1)(1)ChromosomeStructure, type and numberType二、染色體二、染色體(2)(2)ChromosomeMetacentric chromosome: 1/2 -5/8 Submetacentric chromosome: 5/8 7/8Acrocentric chromosome: 7/8 - telomere(一)非顯帶核型Kary

8、otype without band核型 karyotype 核型分析 karyotype analysis三、人類染色體的正常核型（三、人類染色體的正常核型（1）The normal human karyotype type methods G banding trypsin, Giemsa Q banding quinacrine mustard QMR banding NaCl, GiemsaT banding Heat, GiemsaC banding NaOH, GiemsaN banding AgNO3三、人類染色體的正常核型（三、人類染色體的正常核型（2）The normal h

9、uman karyotype Q bandingG bandingModel of G- and R-banding染色體顯帶Q-; G-; R-; C-;三、人類染色體的正常核型（三、人類染色體的正常核型（3）The normal human karyotype 界標(biāo) landmark 區(qū) region 帶 band 1p35 高分辨顯帶高分辨顯帶High resolution banding三、人類染色體的正常核型（三、人類染色體的正常核型（4）The normal human karyotype karyotype with band三、人類染色體的三、人類染色體的正常核型（正常核型（5

10、）The normal human karyotype 三、人類染色體的正常核型（三、人類染色體的正常核型（6）The normal human karyotype Number and structure男性染色體46, XY女性染色體46，XX四、染色體的多態(tài)性（四、染色體的多態(tài)性（1）chromosome polymorphismFISHX染色體Y染色體13號染色體18號染色體21號染色體四、染色體的多態(tài)性（四、染色體的多態(tài)性（2）chromosome polymorphism四、染色體的多態(tài)性（四、染色體的多態(tài)性（3）Detection of tumor人類細(xì)胞遺傳學(xué)國際命名體制(IS

11、CN, 1995)(An International System for Human Cytogenetic Nomenclature)p短臂 q長臂del缺失 dup重復(fù)i等臂 inv倒位rob羅氏易位 t易位der衍生染色體 ter末端 46,XX,t(1;2)(p21;q23)染色體總數(shù)，性染色體組成， 染色體變化染色體號；臂號；區(qū)號；帶號；(.亞帶）染色體命名四、染色體的多態(tài)性（四、染色體的多態(tài)性（4）chromosome polymorphism47, XY, +2145, X46, XX, del(6)(p24)47, XXY45, XY, -14, -21, +rob(14;2

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