1. Genetics Inheritance through Evolution

2. Essential Ideas 3.1 Every living organism inherits a blueprint for life from its parents All members of a species have the same number of chromosomes- each with the same genes in the same gene loci.

3. Understanding A gene is a heritable factor that consists of a length of DNA and influences a specific characteristic. The number of chromosomes varies between species.

4. So what is a gene? Start at 51 seconds through 1.27

5. Understandings A gene occupies a specific position on a chromosome.

6. Genes at particular loci A gene for a specific trait occupies a corresponding place, a locus, on a chromosome. Remember, you have two copies of each gene, one from mom and one from dad.

7. Understandings The various specific forms of a gene are alleles. Alleles differ from each other by one or only a few bases.

8. Review: gene loci TP53

9. Alleles: versions of genes Variations of a gene Differs by only a few base pairs Transducin enables colour vision Single base pair mutation at position 235 (T instead of C) Colour vision vs. or no colour vision

10. Allele differences Single nucleotide polymorphism

12. Cystic Fibrosis CFTR gene

13. Cystic Fibrosis Mucous – necessary for proper fluid movement in the lungs and intestines CFTR gene on chromosome 7 Can mutate to form excessive quantities Autosomal recessive

14. Understandings New alleles are formed by mutations.

15. How are new alleles produced?

16. Point mutation

17. Mutations- Good or Bad?

18. Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient's cells instead of using drugs or surgery. Good or Bad?

19. Mystery of the Black Death LRP5 gene – creates a protein receptor on immune system cell surface Mechanism for HIV to infect cells Missing the gene – can’t get HIV

20. Sickle cell disease A base pair mutation to haemoglobin

22. Sickle cell disease (anemia) Glutamic acidValine What differences in properties can we deduce from the structures? How might this change the quaternary protein structure?

25. How about advantages? Malaria and Sickle Cell Disease

26. Malaria A parasitic disease Caused by a plasmodium cell which causes cells to lyse Carried by the Anopheles mosquito Occurs in tropical regions Symptoms: fever, shivering, vomiting and anemia Death is common: kidney failure or severe anemia

27. Malaria Malaria can’t infect sickled cells Sickle cell trait (one copy of each allele) Heterozygotes have a chemical imbalance with Potassium Insufficient potassium cause Plasmodium to die

28. Understandings The genome is the whole of the genetic information of an organism. The entire base sequence of human genes was sequenced in the Human Genome Project.

29. Human Genome The whole of the genetic information of an organism Begun in 1990 Completed in 2003 Begun in 1990 Completed in 2003

30. Essential Ideas 3.2 Chromosomes carry genes in a linear sequence that is shared by members of a species.

31. Key vocabulary HomologousDiploidHaploidKaryotypesSex-determinationautosome

32. Essential Ideas 3.3 Alleles segregate during meiosis allowing new combinations to be formed by the fusion of gametes.

33. Meiosis Previously covered Amniocentesis Chorionic villus sampling Amniocentesis Chorionic villus sampling

34. Essential Ideas 3.4 The inheritance of genes follows patterns.

35. Understandings Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed. I used the word factor, not gene

37. More Vocabulary GenotypePhenotype Dominant allele Recessive allele Co-dominant alleles Locus Heterozygous Homozygous Carrier Test-cross

38. Understanding Gametes are haploid so contain only one allele of each gene. The two alleles of each gene separate into different haploid daughter nuclei during meiosis.

39. Punnett Square

40. Essential Ideas 3.5 Biologists have developed techniques for artificial manipulation of DNA, cells and organisms.