1. Genetics and Heredity

2. Genetics Genetics is the study of heredity It looks at understanding the biological properties that are transmitted from parent to offspring

3. DNA DNA (deoxyribonucleic acid) is the genetic code for almost every living organism DNA is often called a double helix because of the way it coils –Some ‘organisms’ like mitochondria use RNA (ribonucleic acid) instead of DNA

4. There are 4 parts to DNA called nucleotides:  A (adenine)  T (thymine)  C (cytosine)  G (guanine)

6. A long sequence of nucleotides makes up a gene: –A gene is a portion of the DNA responsible for certain traits or characteristics –Ex) body part structure, hormones, proteins, eye color, hair color etc...

7. Each cell in our body has exactly the same DNA, but only certain genes are ‘turned on’ at a time –Ex) the genes that determine hair color are only turned on in our hair follicles, and the genes that determine our height are only ‘turned on’ in our bone and muscle cells

8. The DNA in our cells is very long and would stretch over a meter if uncoiled Since it is so long, it is divided into chromosomes

9. Chromosomes Chromosomes are small, rod shaped bodies in the nucleus of a cell that contain the DNA

11. Humans have 23 pairs of chromosomes –There are 46 chromosomes in total – you get 23 from your mother, and 23 from your father

14. DNA Coiling

16. Dominant and Recessive Traits Most of the time, our traits are controlled by more than one gene; sometimes though they are controlled by a single gene When a single gene controls a trait it can be dominant or recessive

17. Dominant: ‘stronger’ trait Recessive: ‘weaker’ trait Ex) If you get a dominant trait from either of your parents it will override or mask a recessive trait –Brown eyed genes are dominant over blue eyed genes

18. Even though a recessive trait is not physically shown, you still carry the trait, and can pass it on to your offspring

19. Genotype A genotype is the combination of genes inherited from your parents –B = brown eyes (dominant genes are always written with capital letters) –b = blue eyes (recessive genes are always written with small letters)

21. A person with brown eyes could have either BB or Bb as their genotype A person with blue eyes could only have bb as their genotype

22. What do you think would happen if one parent had BB brown eyes? What color eyes would their offspring have?

24. Homozygous : if both alleles (individual genes) are the same –Ex) BB or bb Heterozygous : if the alleles are different –Ex) Bb

25. Phenotype The phenotype is the visible expression of genes: –Ex) The person has brown eyes, or the person has blue eyes The color is the phenotype in this example

27. Some traits controlled by a single gene Tongue Rolling Widow's Peak L/R interlocking finger Attached earlobes Hitchhiker Thumb (r) Chin fissure Darwin tubercle Polydactyl Dimples Long eyelashes Short big toe

28. Punnett’s Square A Punnett’s Square is a table used to figure out the probability of offspring having a certain trait They allow us to easily cross the genes of the mother and father to determine the possible genotypes and phenotypes

29. A Punnett’s Square takes the alleles from each parent and examines the outcomes The father’s genes usually go on the top and the mother’s genes go on the side

30. Genotypes: 25 % will be homozygous dominant (BB) 50 % will be heterozygous dominant (Bb) 25 % will be homozygous recessive (bb) Phenotypes: 75% will be brown eyed 25% will be blue eyed

31. Example 1: Curly hair (C) is dominant over straight hair (c). If a homozygous recessive man ( cc ) and a heterozygous dominant ( Cc ) woman have a child, what will the genotypes and phenotypes be? Use a Punnett’s Square to find the answer.

32. cc C c Step 1 : Fill in the alleles for the mother and father

33. cc CCcCcCcCc ccc Step 2 : Cross the alleles to fill in the table (the dominant gene is always written first)

34. Step 3 : from the table, figure out the genotypes and phenotypes Genotypes: 50% heterozygous dominant 50% homozygous recessive Phenotypes: 50% curly hair 50% straight hair cc CCcCcCcCc ccc

35. Try This... Example 2: Draw the Punnett’s square for a heterozygous red corsage (Rr) matched with a heterozygous red corsage (Rr). Give the genotypes and phenotypes.

36. Rr RRRRrRr rRrRrrr Genotypes: 25% homozygous dominant 50% heterozygous dominant 25% homozygous recessive Phenotypes: 75% red corsages 25% white corsages

37. Example 3: Your father is homozygous dominant for tongue rolling, while your mother is heterozygous dominant for tongue rolling. Using a Punnett’s Square to determine the genotypes and phenotypes.

38. TT TTT tTtTtTtTt Genotypes: 50% homozygous dominant 50% heterozygous dominant Phenotype: 100% tongue rolling

39. Incomplete Dominance Some traits are controlled by more than one gene When there isn’t a dominant trait it is called incomplete dominance

40. The most common examples are with plants: –Red flowers and white flowers are mixed, but the result is a pink flower, or a red and white striped flower; neither color dominates

42. Sex-linked Inheritance X and Y chromosomes determine sex (gender) Females: XXMales: XY The X and Y chromosomes also carry the genes for certain characteristics including hormone production and development of sex organs

43. The X chromosome carries more traits than the Y as it is larger Sex linked traits tend to impact men more than woman because the men only get one X chromosome

44. Sex linked Examples Colour blindness is carried on the X. A person needs to have all of their X chromosomes affected to have the disorder –This means that in order for a female to have the trait, both her X chromosomes need to have the gene

47. Hemophelia is an X-linked recessive trait. Your blood does not clot properly.

48. XhXh Y XHXH X H X h Carrier X H Y Affected XhXh X h Unaffected X h Y Unaffected

49. Karyotyping Karyotyping is a process where we photograph chromosomes of a cell Chromosomes are studied and paired up and analysis is done to identify chromosomal abnormalities This is usually done before a baby is born

51. Diseases and Defects There are at least 4000 hereditary diseases Examples include muscular dystrophy (cannot control muscles), Huntington’s chorea (attacks nerve cells in the brain), and cystic fibrosis (affects the pancreas and the bronchioles in the lungs)

52. Try this... Example 4: If a homozygous dominant woman and a colour blind man have kids, what percentage will be colour blind?