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Genetics

Genetics. Chapters 11-12. True-breeding Hybridization P generation F 1 generation F 2 generation Alleles Dominant Recessive Homozygous Heterozygous (hybrid). Vocabulary. Law of segregation Law of independent assortment. Laws. http://www.bozemanscience.com/probability-in-genetics.

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Genetics

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  1. Genetics Chapters 11-12

  2. True-breeding • Hybridization • P generation • F1 generation • F2 generation • Alleles • Dominant • Recessive • Homozygous • Heterozygous (hybrid) Vocabulary

  3. Law of segregation • Law of independent assortment Laws

  4. http://www.bozemanscience.com/probability-in-genetics Laws of probability

  5. Complete dominance • Incomplete dominance • Codominance Degrees of dominance

  6. Maybe dominant at organismal level, but codominant at molecular level • Ex. Tay Sachs Dominance and Phenotype

  7. Blood types Multiple alleles

  8. Genes may have multiple phenotypic effects • Ex. Sickle cells, cystic fibrosis Pleiotropy

  9. A gene at one locus affects a gene at another locus • Ex. Labrador retrievers p 217 Epistasis

  10. Many genes involved • Ex. Human skin color and height Polygenic inheritance

  11. Multifactorial-may include genetic and environmental factors • Ex. Heart disease, diabetes, cancer, alcholism, mental illnesses Nature and Nuture

  12. Pedigrees

  13. To wed a cousin or not to wed, that is the question… consanguineous

  14. Albinism • Cystic fibrosis 1/2500 of European descent (4% are carriers) • Sickle Cell Anemia (1/400) (2 allelesfull blown, but organismal level-incompletely dominant; heterozygotes have sickle trait-but may have trouble when oxygen low; molecularcodominant) Recessive disorders

  15. Huntington’s Choreahttp://www.youtube.com/watch?v=Nt2WbFC9ybs • Achondroplasia Dominant Disorders

  16. Sutton, Boveri, et.al • Mendelian genes have specific loci along chromosomes, and it is the chromosomes that undergo segregation and independent assortment Chromosome theory of Inheritance

  17. Fly guy-Drosophila melanogaster • Great experimental organism • Small, large # of offspring, short life span, 8 chromosomes, easily observed traits Phenotype most commonly observed in natural populations~wild type; alternatives~mutant phenotypes Invented notation – use letter of first mutant discovered and wild is indicated with + So, red eyes are dominant and the wild type: w+ White eyes were first mutant: w Thomas Hunt Morgan

  18. Sex-linked traits

  19. SRY-sex determining region of the Y • Y-linked • X-linked Sex chromosomes

  20. Sex linked recessive pedigree

  21. Males can’t be carriers • Males get it from Mom • Males have it more often • Color blindness • Hemophilia-Royal disease (Queen Victoria) • Duchenne muscular dystrophy Sex Linked disorders

  22. One of the X chromosomes is inactivated in embryonic development • Barr Body (Mary Lyon found it is random)-leads to a mosaic • Tortoiseshell cat X inactivation in Female Mammals

  23. Attach methyl groups to DNA • On one X, XIST (X-inactive specific transcript) becomes activemakes RNA product that attaches to one andBarr body How X is inactivated

  24. http://www.youtube.com/watch?v=-_UcDhzjOio Linked genes

  25. Abnormal chromosome number • Nondisjunction in anaphase I or II • Monosomy • Trisomy • Polyploid • Down syndrome • Klinefelter • Turner Aneuploidy

  26. Deletion • Duplication • Inversion • Translocation Alterations in chromosome structure

  27. Cri du chat deletion of part of #5 • CML- chronic myelogenous leukemia reciprocaltranslocation between #9 and #22-shortened 22Philadelphia chromosome Disorders

  28. Angelmans syndrome http://www.angelman.org/understanding-as/diagnosis/ • Prader-Willi’s syndromehttp://www.youtube.com/watch?v=-6nzi5Rc4wY Genomic imprinting

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