人类染色体的正常核型

1、一、染色质一、染色质 chromatin二、染色体二、染色体 chromosome三、人类染色体的正常核型三、人类染色体的正常核型 the normal human karyotype 四、染色体的多态性四、染色体的多态性 chromosome polymorphism第二节第二节 遗传的细胞基础遗传的细胞基础Cellular Basis of Inheritance(一)染色质的分子结构 chromatin structure(二)常染色质和异染色质 euchromatin and heterochromatin(三)性染色质 (sex chromatin) X chromatin Y ch

2、romatinChromatin一、染色质（1）Chromatin一、染色质（2）1 Chemical components of chromatin: DNA、protein、a little of RNA2 Higher levels of chromatin structure: Four levels of DNA packingChromatin一、染色质（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、染色质（4）核小体/nucleosomeChromatin一、染色质（5） DNAnucleosomeChromatid764058400Chromatin一、染色质（6）30 nm chromatin fiber of packed nucleosomes.Section of chromosome in an extended forml染色质 chromatinInterp

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

5、matinChromatin一、染色质（10）1961年，Lyon X 染色体失活假说 (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、染色质（11）Dosage compensation effect剂量补偿效应 Y染色质(Y chromatin)：maleinterphase 0.3 m body, Q-bright region of Y chromosomeChromatin一、染色质（12）structure;:

7、 短臂 p 长臂 q 着丝粒 centromere 主缢痕 primary constriction 端粒 telomere 次缢痕secondary constriction 随体 satellite二、染色体二、染色体(1)(1)ChromosomeStructure, type and numberType二、染色体二、染色体(2)(2)ChromosomeMetacentric chromosome: 1/2 -5/8 Submetacentric chromosome: 5/8 7/8Acrocentric chromosome: 7/8 - telomere(一)非显带核型Kary

8、otype without band核型 karyotype 核型分析 karyotype analysis三、人类染色体的正常核型（三、人类染色体的正常核型（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、人类染色体的正常核型（三、人类染色体的正常核型（2）The normal h

9、uman karyotype Q bandingG bandingModel of G- and R-banding染色体显带Q-; G-; R-; C-;三、人类染色体的正常核型（三、人类染色体的正常核型（3）The normal human karyotype 界标 landmark 区 region 带 band 1p35 高分辨显带高分辨显带High resolution banding三、人类染色体的正常核型（三、人类染色体的正常核型（4）The normal human karyotype karyotype with band三、人类染色体的三、人类染色体的正常核型（正常核型（5

10、）The normal human karyotype 三、人类染色体的正常核型（三、人类染色体的正常核型（6）The normal human karyotype Number and structure男性染色体46, XY女性染色体46，XX四、染色体的多态性（四、染色体的多态性（1）chromosome polymorphismFISHX染色体Y染色体13号染色体18号染色体21号染色体四、染色体的多态性（四、染色体的多态性（2）chromosome polymorphism四、染色体的多态性（四、染色体的多态性（3）Detection of tumor人类细胞遗传学国际命名体制(IS

11、CN, 1995)(An International System for Human Cytogenetic Nomenclature)p短臂 q长臂del缺失 dup重复i等臂 inv倒位rob罗氏易位 t易位der衍生染色体 ter末端 46,XX,t(1;2)(p21;q23)染色体总数，性染色体组成， 染色体变化染色体号；臂号；区号；带号；(.亚带）染色体命名四、染色体的多态性（四、染色体的多态性（4）chromosome polymorphism47, XY, +2145, X46, XX, del(6)(p24)47, XXY45, XY, -14, -21, +rob(14;2

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