Chapter 10 Chromosomes and chromosome errors Making chromosome

Preparations • • Growing of lymphocytes Harvesting of cells Staining Growing of other cell

Normal karyotype, cattle Number of chromosomes: 2 N = 60, XY

Chromosome errors, cattle Trisomy 22, 2 N = 61, XX Translocation 1 -8, 2

Less severe chromosome errors Known centromere fusiones Cattle Blue fox Swine 1/29 23/24 14/16

Chromosome paint Identity of a chromosome or piece of chromosome diagnosed by chromosome paint

Less severe chromosome errors Sex-chromosome errors: XY, XXX and X 0 mares Blood chimeras

Chromosome paint: Example with Swine Application of swine chromosome 12 p-arm from library of

Chromosome paint: Example with humans The human chromosome each painted in its own colour

Chromosome paint Example using a mink cosmid

Example using heterologous paint Mink 13 Human 14 probe

Chromosome errors diagnosed by DNA-content in sperm cells Flow-cytometri on sperm cells normal boar

Chromosome errors diagnosed by DNA-content in sperm cells Translocation boar

Chromosome specific DNAprobe for diagnosis of nondisjunction in sperm cells Mink chromosome 8 specific

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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 DNAcontent in sperm cells

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

Normal karyotype, cattle Number of chromosomes: 2 N = 60, XY

Normal karyotype, swine 2 N = 38, XX XX

Normal karyotype, cat 2 N = 38 XY

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

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

Chromosome paint Identity of a chromosome or piece of chromosome diagnosed by chromosome paint Application of species specific probes: c. DNA, cosmids, bac clones etc. Application of chromosome specific libraries (paints): Specie specific (Homologous) From another specie (Heterologous)

Less severe chromosome errors Sex-chromosome errors: XY, XXX and X 0 mares Blood chimeras in cattle twins: Freemartins

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

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

Chromosome paint Example using a mink cosmid

Example using heterologous paint Mink 13 Human 14 probe

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

Chromosome errors diagnosed by DNA-content in sperm cells Translocation boar

Chromosome specific DNAprobe for diagnosis of nondisjunction in sperm cells Mink chromosome 8 specific probe