Mendelian Inheritance

1. Mendelian Inheritance ... the outward physical manifestation of internally coded, inheritable, information.

2. Genetics: expression of genes

3. Gregor Mendel • Father of Genetics • 1823-1884

4. Gregor Mendel • Austrian monk • Studied science and mathematics at University of Vienna • Conducted breeding experiments with the garden pea Pisum sativum • Carefully gathered and documented mathematical data from his experiments • Formulated fundamental laws of heredity in early 1860s • Had no knowledge of cells or chromosomes • Did not have a microscope

5. One-Trait Inheritance • Mendel performed cross-breeding experiments with pea plants • Used “true-breeding” (homozygous) plants • Chose varieties that differed in only one trait (monohybrid cross) • Performed reciprocal crosses • Parental generation = P • First filial generation offspring = F1 • Second filial generation offspring = F2 • Formulated the Law of Segregation

6. Why Peas? • Either or traits • Easy to grow • Many offspring • Easy to regulate pollination

7. Mendel’s method

8. Tall Tall Short

9. Mendel’s Hypotheses • Each parent has two factors (alleles) • Each parent gives one of those factors to the offspring • Tall has TT • Short has tt • Tall is dominant • Short is recessive

12. Law of Segregation • Each individual has a pair of factors (alleles) for each trait • The factors (alleles) segregate (separate) during gamete (sperm & egg) formation • Each gamete contains only one factor (allele) from each pair • Fertilization gives the offspring two factors for each trait

13. T t Tt TT tt

14. T T TT TT TT

15. t t tt tt tt

18. Modern Genetics View • Each trait in a pea plant is controlled by two alleles (alternate forms of a gene) • Dominant allele (capital letter) masks the expression of the recessive allele (lower-case) • Alleles occur on a homologous pair of chromosomes at a particular gene locus • Homozygous = identical alleles • Heterozygous = different alleles

19. Law of Segregation and Random Fertilization… genetic variation • Alleles separate during gamete production • Gametes have one allele for each trait • During fertilization gametes combine at random to form individuals of the next generation

21. Discovery of Chromosomes in 1900 Confirms Law of Segregation • Chromosomes are in pairs • Each chromosome has one of the allele pair

22. Homologous Chromosomes • Chromosomes of the same pair • Each homologue will have one allele for a paired gene • Homologous chromosomes pair up during meiosis • Only one of each homologue will be in each gamete

24. Meiosis I Metaphase Chromosomes line up in a double row. T T t t Assume a T allele on each red chromatid and a t allele on each green chromatid

25. Chromosomes separate Each each daughter cell gets doubled chromosomes t t T T

26. Doubled Chromosomes Separate in Second Meiotic Division T T t t

27. Each gamete will have a T allele or a t allele T T t t

28. Allele • Member of a paired gene • One allele comes from each parent • Represented by a single letter

29. Dominant & Recessive Alleles • Dominant alleles are expressed • Recessive alleles are not expressed in the presence of a dominant allele • Recessive alleles are only expressed if both alleles are present

30. Homozygous • Both alleles alike • AA or aa or A A a a

31. Heterozygous • Alleles are different • Aa A a

32. Genotype • Genetic make up • Represented by alleles • TT & Tt are genotypes for tall pea plants This is the "internally coded, inheritable information" carried by all living organisms.

33. Phenotype • A trait • Genotype determines the phenotype • Tall is a phenotype • “Think adjective!” • Descriptive This is the "outward, physical manifestation" of the organism.

34. Phenotype: red flowers • Cells contain red granules • Enzymes help convert colorless pigment into red pigment • Most enzymes are proteins • Most traits are produced by the action of proteins.

35. Summary: Genotype Versus Phenotype • Genotype • Refers to the two alleles an individual has for a specific trait • If identical, genotype is homozygous • If different, genotype is heterozygous • Phenotype • Refers to the physical appearance of the individual

36. Punnett Square • Table listing all possible genotypes resulting from a cross • All possible sperm genotypes are lined up on one side • All possible egg genotypes are lined up on the other side • Every possible zygote genotypes are placed within the squares

37. Monohybrid Testcross • Individuals with recessive phenotype always have the homozygous recessive genotype • However, Individuals with dominant phenotype have indeterminate genotype • May be homozygous dominant, or • Heterozygous • Test cross determines genotype of individual having dominant phenotype

38. One-Trait Test CrossUnknown is Heterozygous

39. One-Trait Test CrossUnknown is Homozygous Dominant

40. Human Genetic Disorders • Autosome - Any chromosome other than a sex chromosome • Genetic disorders caused by genes on autosomes are called autosomal disorders • Some genetic disorders are autosomal dominant • An individual with AA has the disorder • An individual with Aa has the disorder • An individual with aa does NOT have disorder • Other genetic disorders are autosomal recessive • An individual with AA does NOT have disorder • An individual with Aa does NOT have disorder, but is a carrier • An individual with aa DOES have the disorder

41. Albinism • Lack of pigment • Skin • Hair • Eyes

42. a A AA = Normal pigmentation Aa = Normal pigmentation aa = Albino Enzyme Melanin Pigment Amino Acids

43. A man & woman are both carriers (heterozygous) for albinism. What is the chance their children will inherit albinism?

44. AA = Normal pigmentation Aa = Normal pigmentation (carrier) aa = Albino A A a a Man = Aa Woman = Aa

45. A A a a Aa AA Aa aa

46. Aa AA Aa aa Genotypes 1 AA, 2Aa, 1aa Phenotypes 3 Normal 1 Abino Probability 25% for albinism

47. Dwarfism Dwarfism = D Normal height = d DD = Dwarfism Dd = Dwarfism dd = Normal height Dwarf Band

48. A man with heterozygous dwarfism marries a woman who has normal height. What is the chance their children will inherit dwarfism? Dwarfism is dominant.

49. DD = Dwarf Dd = Dwarf dd = Normal Dd Dd dd dd d d D d

50. Dd Dd dd dd Genotypes 2 Dd, 2dd Phenotypes 2 Normal 2 Dwarfs Probability 50% for Dwarfism