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IB Biology Karyotypes ppt 2012-13

IB Biology Karyotypes ppt 2012-13

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  • 1. KaryotypesOuhday S., Drew E., D.J. C.
  • 2. What arekaryotypes? Karyon = kernel, seed, or nucleus the number and appearance of chromosomes in the nucleus of a eukaryotic cell Chromosomes: an organized structure of DNA & protein found in cells 23 pairs (23 from each parent) karyogram--compare pairs, sizes, position of centromere Giemsa dye-staining
  • 3. What are karyotypes evenused for? (or karyograms of karyotypes) are often Karyotypes used to determine things about a fetus. A blood sample is taken from the mother, and by looking at the karyotype, chromosomal abnormalities can be determined. Observed to see chromosomal and genetic differences between species and within the same species over time. # of chromosomes, the shape/size of chromosomes, and sex of an individual can be observed among other things.
  • 4. How karyotyping is done. Staining Giemsa dye after cell division Can use almost any cell or tissue1. Blood drawn2. Amniocentesis (to test amniotic fluid)3. Sample grows4. Stained
  • 5. History Karl Wilhelm von Nägeli first observed chromosomes (via plant cells) in 1842 1920’s-T.S. Painter, XX/XY system for determining sex (not XX/X0) 48 chromosomes 1955/1956, Joe Hin Tijo correctly determined # of chromosomes (46)
  • 6. T.S. PainterKarl Wilhelm von Nägeli Joe Hin Tijo
  • 7. Abnormalities/Diseases Turner Syndrome missing or incomplete X chromosome develop as females Down Syndrome error in cell division...extra 21st chromosome impairments in both cognitive ability and physical growth Patau Syndrome trisomy of chromosome occurs in approximately one out of every ten-thousand to sixteen-thousand infants
  • 8. Turner Syndrome Patau SyndromeDown Syndrome
  • 9. Questions!
  • 10. Who first observedchromosomes? Karl Wilhelm von Nägeli
  • 11. What’s the Greek word that “karyotypes” was derived from? Karyon
  • 12. What’s the name of the dyeused to stain karyotypes? Giemsa
  • 13. Who determined the right number of chromosomes in the human karyotype? Joe Hin Tijo
  • 14. How many chromosomes are in the average human karyotype? 46
  • 15. To get a karyotype of the fetus, a ___ sample is taken from the mother. Blood
  • 16. Define “amniocentesis” the sampling of amniotic fluid using a hollow needle inserted into the uterus, to screen for developmental abnormalities in a fetus
  • 17. Define “trisomy” a condition in which an extra copy of a chromosome is present in the cell nuclei, causing developmental abnormalities
  • 18. Which disease is caused by a missing or incomplete X chromosome? Turner Syndrome
  • 19. Which chromosome is affected if someone has Down Syndrome? 21st
  • 20. Which chromosome is affected if someone has Patau Syndrome? 13
  • 21. Virtual Activity Time!
  • 22. http://learn.genetics.utah.edu/content/be
  • 23. Video Time!
  • 24. Youtubehttp://www.youtube.com/watch?v=q8errsrd4Fhttp://www.youtube.com/watch?v=F5Zz0sQPhttp://www.youtube.com/watch?v=IHhwGM4
  • 25. Hands-OnActivity Time!