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Chapter 10: Chromosomes and chromosome errors

Chapter 10: Chromosomes and chromosome errors. Making chromosome preparations Normal karyotypes from domestic animals Chromosome errors Identification of chromosomes with chromosome paint Chromosome errors diagnosed by DNA-content in sperm cells. Preparations. Growing of lymphocytes

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Chapter 10: Chromosomes and chromosome errors

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  1. Chapter 10: Chromosomes and chromosome errors • Making chromosome preparations • Normal karyotypes from domestic animals • Chromosome errors • Identification of chromosomes with chromosome paint • Chromosome errors diagnosed by DNA-content in sperm cells

  2. Preparations • Growing of lymphocytes • Harvesting of cells • Staining • Growing of other cell types

  3. Normal karyotype, cattleNumber of chromosomes: 2N = 60, XY

  4. Normal karyotype, swine 2N = 38, XX X X

  5. Normal karyotype, cat 2N = 38 XY

  6. Chromosome errors, cattle Trisomy 22, 2N = 61, XX Translocation 1-8, 2N = 60, XY

  7. Less severe chromosome errors Known centromere fusiones Cattle 1/29 Blue fox 23/24 Swine 14/16 Female chromosome Number of litters Litter size 48 16 11,9 49 42 9,8 50 17 11,2 A centromere fusion in heterozygotes lowers the fertility with ca. 10 % Chromosome 1 and 29 Fusion 1/29

  8. Chromosome paintIdentity of a chromosome or piece of chromosome diagnosed by chromosome paintApplication of species specific probes: cDNA, cosmids, bac clones etc.Application of chromosome specific libraries (paints):Specie specific (Homologous) From another specie (Heterologous)

  9. Less severe chromosome errors Sex-chromosome errors: XY, XXX and X0 maresBlood chimeras in cattle twins: Freemartins

  10. Chromosome paint: Example with Swine Application of swine chromosome 12 p-arm from library of swine chromosomes Back ground picture: Two yellow spots are the p-arm swine chromosome 12 Black and white picture of same paint with two stained chromosome pices

  11. Chromosome paint: Example with humans The human chromosome each painted in its own colour Metaphase Karyotype Black and white picture and two stained chromosomes showing a translocation

  12. Chromosome paintExample using a mink cosmid

  13. Example using heterologous paint Mink 13 Human 14 probe

  14. Chromosome errors diagnosed by DNA-content in sperm cells Flow-cytometri on sperm cells normal boar 4% deviation { Y X

  15. Chromosome errors diagnosed by DNA-content in sperm cellsTranslocation boar

  16. Chromosome specific DNA-probe for diagnosis of non-disjunction in sperm cellsMink chromosome 8 specific probe

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