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2.  Nuclear DNA Condenses during the cell division and appears as ‘colored bodies’ (with stains); the Chromo+somes.  Chromosomes were discovered by Karl von Nageli in 1842, later the term ‘Colored bodies were coined by HW Waldeyer (1888). However, the modern understanding came into light years later.. 7/18/2015 2

3. Mendel's to Chromosome theory (or Sutton-Boveri Theory) chromosomes, which are seen during cell division pass from one generation to the next, forms the basis for genetic inheritance 7/18/2015 3 Introduction cont…

4. Mendelian inheritance to chromosomes to Genes Thomas Hunt Morgan demonstrated that genes are carried on chromosomes and are the mechanical basis of heredity. He was awarded the 1933 Nobel Prize. 7/18/2015 4

5.  Exposed chromatin is ‘Euchromatin’ allows gene expression (transcription)  Compacted chromatin (unexposed) in non dividing cell is heterochromatin  Compacted chromatin in dividing cells are chromosomes 7/18/2015 5 Chromatin & Chromosome

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7. The Chromatin versus Chromosome 7/18/2015 7

8. The structural unit of chromatin 7/18/2015 8

9. 9 Core histone consists of Pair of H2A, H2B, H3 & H4

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11. Copy right US national library of Medicine 7/18/2015 11

12.  Chromosome is an organized DNA and protein found in the cell.  Chromosome is a single piece of coiled DNA containing many genes.  Chromosomes are structures ready to pass genetic information to next generation: the heredity 7/18/2015 12

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14. Objectives  To study the methods of chromosome analysis i.e. Karyotyping and other methods.  Chromosomal abnormalities (2 nd lecture) 7/18/2015 14

15.  Karyotyping  Fluorescent In-situ Hybridization (FISH)  Comparative Genomic Hybridization (CGH) 7/18/2015 15

16.  A method of analyzing chromosomes  Any human cell that undergoing cell division can be used to analyze human chromosomes  Method: 1. Add a mitotic stimulant to cells i.e. Phytphaemagglutinine 2. Culture for 3 days 3. Add colchicine to the cell culture to arrest the cell at metaphase 4. Burst the cells with hypotonic saline to release chromosomes 5. Stain the chromosomes (Giemsa) 6. Photograph the stained chromosomes 7. Arrange the chromosomes pictures 7/18/2015 16

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22. Method in brief 7/18/2015 22 Complementary Fluorescent probe A AT T T A

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24.  FISH image of chromosomes with a probe that 'paints' chromosome 10. Note the extra chromosome 10 material on chromosome 2, which is abnormal. 7/18/2015 24

25.  Identifies abnormal areas in chromosomes (i.e. in tumor cells)  No need to use the dividing cells 7/18/2015 25

26.  The next lecture 7/18/2015 26

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