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Warm Up

Learn about karyotypes, DNA samples, and chromosomal abnormalities like Trisomy 21 and Turner syndrome. Explore deletions, duplications, inversions, and translocations. Understand genetic disorders and the role of alleles on chromosomes.

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Warm Up

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  1. Warm Up • Complete Edpuzzle on pedigrees • If you haven’t completed Edpuzzle from yesterday do so now • You will have 10 minutes before we start the notes

  2. Karyotypes What are they?? How do we use them?

  3. Normal Karyotype--male

  4. Normal Karyotype--female

  5. Is this person female or male?

  6. How are DNA samples obtained for karyotypes?

  7. What to look for? • Are there 46 chromosomes? • Are there 2 identical pairs of each autosome and 2 sex chromosomes? • Are there any rearrangements between chromosomes or large deletions?

  8. Trisomy 21 or Down Syndrome 1 in 700 births 47 chromosomesXY or XX #21 Trisomy Nondisjunction 3

  9. Correlation between mother’s age and Trisomy 21 incidence

  10. Turners syndromecaused by Nondisjunction Monosomy

  11. Male or Female? Is this a normal karyotype?? XXY Male (Extra X)

  12. Klinefelter syndrome • XXY on 23rd pair • Male with some female characteristics • small testes that do not produce as much testosterone as usual • Delayed puberty • Reduced body hair • infertility

  13. Deletion—18 Q Deletion Syndrome

  14. If there are chromosomal number abnormalities, how do they form? • Meiosis: the process of creating sperm or egg from a diploid cell • If there is a mistake when chromosomes are separating, then the resulting sperm or egg will have too many or too few chromosomes.

  15. Nondisjunction

  16. What we can’t see • Individual DNA strands or genes • The number of genes in any given area of a chromosome. • The presence or location of small mutations. (Scientists cannot predict diseases caused by small mutations within genes.

  17. Other chromosomal disorders that can arise?

  18. Problems with chromosomes • Duplication: copied parts of chromosome A B C D A B B B C D

  19. Problems with chromosomes • Deletion: missing parts of chromosome A B C D A D

  20. Problems with chromosomes • Inversion: parts of chromosome tched A B C D A C B D

  21. Chromosomal mutations Deletion Duplication Inversion Translocation

  22. Human genetic disorders from deleterious genes • Sometimes the alleles inherited contribute to disorders and not from the number or shape of the chromosomes. • Sex-linked: genes found on X or Y chromosome • Recessive: requires 2 allele copies to express disorder • Dominant: requires only 1 allele copy to express disorder

  23. Recessive disorders

  24. Dominant disorder

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