Genetics

1. Genetics

2. Genetics • Bell: What is Genetics? • Study of heredity • passing of traits from parents to offspring • Traits- Visible characteristics

3. Gregor Mendel • Watch video clips- DVD and “From the Gardent to the Genome” YouTUBE- click for link • “Father of Genetics” • Austrian Monk • Conducted experiments with peas • Used numbers in the study of biology

4. Gregor Mendel • Experimented with • Self-pollination - fertilization within itself • Creation of pure-breed or true-breed • offspring identical to parents • Cross-pollination - fertilization of one by another • Offspring from both parents

5. Gregor Mendel • How many experiments were needed to determine conclusive results? • Heads/Tails Activity • Round x Wrinkled = 7324 offspring • Yellow x Green = 8023 offspring • Axial x Terminal = 858 offspring • Purple x White = 929 offspring • Inflated x Constricted = 1181 offspring • Green x Yellow = 580 offspring • Tall x Dwarf = 1064 offspring

6. Mendel’s First Experiment- Terminology and Crosses • Parental Generation - P • - Purebreds for each parent • 1st Filial - F1 (first generation) • offspring of cross (children) • created hybrid - cross between 2 parents • 2nd Filial - F2 (second generation) • Grandchildren

7. Mendel’s Conclusions • I. Traits are determined by a “factor” • Now termed GENES • Different forms of a gene are called ALLELE • II. Each “factor” is inherited separately • III. Each trait is determined by one of the “factors” inherited from the parents • Principle of Dominance - • Dominant masks the expression of the recessive

8. Bellringer - Genetics Day 2 • What will be the fur color of the offspring of Benjamin Bear and Elizabeth Bear?

9. Genetics Terminology • Purebred or True-breed • Dominant • Recessive • Genotype • Phenotype • Homozygous • Heterozygous

10. Practice with REEBOPS 4 • How many show the dominant phenotype for body segments? • How many show the recessive eye number? • What is the genotype of those showing the recessive eye number? • What is the genotype of those showing the dominant phenotype for eye number ? • Are there any traits that are not dominant or recessive? 1 ee EE or Ee *Which of the traits shown are heterozygous? Orange Nose, 2 antennae, 2 humps Hump #, Nose Color, Antennae #

11. Teddy Bear Genetics • Law of Segregation = 2 forms of a gene/ allele are separated during meiosis • (one to each gamete) • Complete the Teddy Bear Genetics

12. Probability • Likelihood that an event will happen • Ex) coin toss • 1 coin flip = 1/2 chance or 50% • Heads 3 times in a row = 1/2 x 1/2 x 1/2 = 1/8 • 1/2 chance for each event (flip) • Principles of Probablility can be used to predict genetic outcomes

13. Genetics and Probability • Ability to roll tongue = dominant trait • Can you determine your genotype? • With a partner: • John is heterozygous for tongue rolling and Nancy cannot roll her tongue. What is the chance that they will have children that cannot roll their tongue? • How did you figure it out?

14. Genetics and Probability • Punnett Square - tool used to predict genetic combinations • Tongue Rolling problem with punnett square • Closure problem: George and wife are both heterozygous for widow’s peak. What percentage of their children will have a Widow’s peak? • HW: Bikini Bottom Genetics

15. Genetics and Probability Day 3 • Bellringer: Mom and Dad both have free earlobes. Junior also has free earlobes. His sister has attached earlobes. What are Mom and Dad’s genotypes in relation to earlobes? What is the chance that they will have another child with attached earlobes? • Check Bikini Bottom Genetics • Classwork: Genetics Worksheet

16. Genetic Crosses • Test Cross: used to determine genotype of dominant phenotype • Cross an “unknown” dominant with a recessive • Why?

17. Genetic Crosses - 2 traits • Principle of Independent Assortment - • genes segregate independently during meiosis • cause of different genetic combinations in gametes • Dihybrid cross • both parents are hybrid for 2 traits

18. Genetic Crosses - 2 traits • Dihybrid worksheet practice • Mendel’s peas activity • Dihybrid Crosses

19. Beyond Dominant and Recessive • Incomplete Dominance - • neither allele is dominant over the other • Purebreds phenotypes are 2 extremes • Hybrid phenotype is in the middle

20. Incomplete Dominance4 o’clock Flowers X

21. Beyond Dominant and Recessive • Codominance • Both alleles are dominant • Hybrid shows both traits

22. Codominance-Roan Cattle

23. Bell: Day 5 • How are codominant and incomplete dominant alleles different than dominant and recessive alleles? • AGENDA • Incomplete Dominance Practice • Multiple Alleles • Blood Typing Lab • Blood Type Problems

24. Multiple Alleles • Humans have ______ blood types • Alleles: • Type • A = • B= • AB = • O=

25. Human Heredity: Day 6 • Bell: What is the genotype of the possible children if a heterozygote for Widow’s peak marries a homozygous recessive (straight hairline)? • What is/are the possible phenotype(s)? AGENDA 1. Independent Projects 2. Blood Typing 3. Pedigrees 4. Sex-linked traits *Quiz NEXT time*

26. Human Heredity • Human Chromosomes • Human cell = • 46 chromosomes (23 pairs) • 1 set from Mom (egg) : 1 set from Dad (sperm) • 2 of those are known as sex chromosome • Female = XX • Male = XY • Remaining 44 chromosomes = autosome

27. Pedigree • Chart that shows the relationships within a family • Often used to determine the mode of inheritance

28. Pedigree (cont.) • Female = • Male = Affected Female = Affected Male = • If a heterozygote is known then half of the shape is shaded Pedigree Practice Worksheet

29. Pedigree Practice: Autosomal Dominant? A. B. C. • Draw each pedigree • Assume that the affected trait is dominant. Write the genotypes beside each recessive individual • Is it possible for this trait to be autosomal dominant? -Circle if possible or X if not possible • Can two affected individuals have unaffected children?

30. Pedigree PracticeAutosomal Recessive? • Assume the trait is recessive. • Draw the pedigree and write the genotype beside each person. • Is it possible for the trait to be recessive? - Circle if possible or X if not possible • If the trait is autosomal recessive, what can you conclude the children will be of two affected parents? A. B. C.

31. Pedigree Practice Carrier- Heterozygote that “carries” the affected allele, but does not express the allele (Allele remains hidden.) • Is the affected trait autosomal dominant or recessive? Why? ** Who are the carriers?

32. Day 7 • Bell: • Fifty wavy-haired couples decide to form a commune, because they think wavy hair is cool. Each couple has two children. Out of the 100 children, how many of them should have “uncool” straight hair? (Of course, they will have to be excommunicated, along with their curly-haired siblings, once they reach adulthood.) • AGENDA • Quiz • Pedigree • Sex-linked Traits

33. Sex-Linked Genes • Pattern of inheritance is located on the X-chromosome or the Y- chromosome • Y is much smaller • Therefore, there are more X-linked disorders/traits

34. What numbers to you See?

35. Ex. Colorblindness • X-linked disorder • Most common in ? • Males (1/10) • Females (1/100) • Allele Definition -

36. Colorblind Problem Marian’s father is colorblind. Marian herself has normal color vision. Marian and her husband, Martin, who is also colorblind, have just had their first child; a son they have named Mickey. (Write the genotypes of Marian and Martin.) a. What is the probability that their son is colorblind? b. If Martin were not colorblind, how would this affect the prediction about Mickey? c. If Marian and Martin were to have a girl, who they would name Minnie, what is the probability that she would be colorblind?

37. X-linked BELL • Hemophelia is a hereditary disease in which the blood does not clot. The allele for normal blood clotting is carried on the X chromosome. • 1. A carrier female marries a hemophilic man. How many male children will have hemophilia? How many female children? • 2. A normal woman whose father had hemophilia marries a normal man. What is the chance that their children will have hemophilia? • 3. Todd is not colorblind. He is married to Ann whose father was red-green colorblind. Todd and Ann have 2 children, Ed is colorblind and lisa is not. What are the genotypes of Todd, Ann, Ed, and Lisa?

38. Pedigree Practice A B C • Draw the pedigree and write the genotypes beside each individual. Assume X-linked recessive. • Is it possible for it to be x-linked recessive? • What can you conclude about children whose mother is affected by an x-linked recessive trait?

39. X-linked Conclusions • What can you conclude about children if only the mother is affected by an X-linked recessive trait? • Why is it possible for females to be carriers of X-linked traits, but not males to be carriers?

40. BELL: PEDIGREEOne last time! • BELL - Pedigree (one last time). Using the markers, solve the 1, 2, and 3 pedigrees • Erase when finished. AGENDA 1. Turn in Alcaptunuria Lab. 2. Karyotype Internet Activity 3. Karyotype notes 4. Genetic Disorders/Disease Project

41. Karyotype • Organized profile of a human’s chromosomes • Chromosomes are paired by • centromere location • banding pattern • Size

42. Analyzing Karyotypes • What can you tell by this karyotype?

43. Analyzing Karyotypes • What can you tell by this karyotype?

44. Analyzing Karyotypes • What can you tell by analyzing this karyotype?

45. Analyzing Karyotypes • What can you tell by analyzing this karyotype?

46. Analyzing Karyotypes • What can you tell by this karyotype?

47. Analyzing Karyotypes • What can you tell by analyzing this karyotype?

48. Karyotype Analysis: Chromosomal Disorders • Nondisjunction- occurs when either homologous chromosome fails to separate during meiosis • Results abnormal # of chromosomes in gametes • Trisomy = 1 extra homologous chromosome (3) • Polysomy = more than 1 extra • Monosomy = only 1 chromosome

49. Karyotype Analysis: Chromosomal Disorders • High frequency of Nondisjunction in humans • Results usually so devastating that it results in miscarriage • Only 3 trisomies that result in babies • Down’s syndrome - 21 • Edward’s syndrome - 13 • Patau Syndrome - 18

50. Nondisjunction: Sex Chromosomes • Monosomy (X only) = Turner’s Syndrome • Trisomy (XXY or XXXY) = Klinefelter’s Syndrome • Trisomy (XXX) - cannot be distinguished from normal females / no affect • When would the effect show up?