1. Chapter 10 - Genetics

2. What is Genetics? The study of heredity
Heredity: passing of traits from parent to offspring

3. Study of Genetics Children inherit traits
Need to study many generations

4. Review: Genes Section of DNA on chromosomes Paired
1 from mom & 1 from dad

5. Gregor Mendel (1857) “Father of Genetics”
Discovered patterns of inheritance by breeding pea plants

6. Mendel’s Experiments Why pea plants?
Easy to grow & can be self pollinated
Hypothesized that “factors” carry information about traits

7. Flower Anatomy

8. Mendel’s Laws
Independent Assortment: traits are not inherited together
Segregation: Alleles separate when gametes are formed

9. What We Know Now “Factors” are called genes
Different forms of a gene are called alleles
Represented by letters
Ex. flower color alleles
P (purple) or p (white)

10. Alleles Capital letter = dominant allele Ex. P (purple)
Lower case = recessive allele
Ex. p (white)

11. Important Vocabulary
Genotype = alleles (letters) that make up that trait
Ex. PP
Phenotype = physical appearance of trait
Ex. Purple

12. Important Vocabulary (Cont.)
Homozygous: two of the same alleles (a.k.a. purebreed)
Ex. PP or pp
Heterozygous: two different alleles (a.k.a. hybrid)
Ex. Pp

13. Inheritance Of Traits
If you inherit one dominant allele the recessive allele will not be expressed

14. Predicting Our Traits
Punnett squares show possible genotypes

15. Setting up a Punnett Square
Alleles from Father g
Alleles from Mother g
G = Green g = White

16. Interpreting Punnett SquaresGg
Offspring

17. Interpreting Punnett Squares (Cont.)
Offspring are:
100 % Heterozygous
Their genotype is Gg
Their phenotype is green

21. Monohybrid Cross: Punnett Squares that analyze only one trait:
Depending on the parents alleles they can produce 1 or 2 different gametes for that trait.

22. Dihybrid Cross: Punnett Squares that analyze two traits:
If both parents are homozygous for the two traits only one gamete can be formed (all heterozygous).

23. Dihybrid Continued:
If parents are heterozygous for the two traits than 4 types of alleles from male gametes and 4 types of alleles from female gametes can be formed.

24. Genotypes: almost all different!
Phenotypic Ratio is:
9:3:3:1
Genotypes: almost all different!

25. Probability Measure of how likely something will occur
Ex. What is the probability of getting heads when you flip a coin?
Ans. 50%

26. Probability
Punnett squares used to predict the probability of inheriting a trait!
Actual data not perfect- larger # of offspring more likely match the results predicted.

27. Recessive Genetic Disorders
Need to inherit two copies of recessive allele
Tay Sachs
Sickle Cell Anemia

28. More Recessive Genetic Disorders
Cystic Fibrosis
Albinism
Galactosemia

29. Dominant Genetic Disorders
Only need 1 copy of dominant allele
Polydactyly,
Marfan Syndrome

30. More Dominant Genetic Disorders
Huntington’s Disease
Achondroplasia

31. Ch 11.2 Complex Patterns of Inheritance
Most traits are not simply dominant or recessive

32. Incomplete Dominance Dominant & recessive traits appear to "blend"
Ex. snapdragon flowers
red x white = pink
RR rr Rr

33. Incomplete Dominance B B BB BB B Bb Bb b
A homozygous dominant black cat is crossed with a gray cat and black is incompletely dominant over white. What is the percentage of having a gray kitten? B B BB BB B Bb Bb b

34. Incomplete Dominance
A gray cat is crossed with another gray cat and black is incompletely dominant over white. Complete a Punnett square and tell me what is the genotypic and phenotypic ratio of that cross?
Phenotypic ratio:
Genotypic ratio:

35. Codominance Two traits are both fully seen “Co”= together
Ex. Roan Horses have both red & white hairs

36. Codominance R W R RR RW RR RW R
Both alleles should be Capital letters since one is not dominant over another.
Cross: Roan Horse X Red Horse R W R RR RW RR RW R

37. Codominance
In humans, wavy hair (CS) results by the co-dominance pattern of curly hair (C) and straight hair (S). What are the possible results if a wavy-haired man and a straight-haired woman have children?
List Genotypic and Phenotypic Ratios!

38. Multiple Alleles Two or more alleles control the phenotype
Ex. Human ABO blood groups

41. Multiple Alleles
A woman with type B (heterozygous) blood and a man with type AB blood are expecting a child. What are the possible blood types of the kids?

42. Multiple Alleles
A test was done to determine the biological father of a child. The child’s blood Type is B and the mother’s is Type A. Dude #1 has blood type O and dude # 2 has blood type AB. Which dude is the biological father?

43. Polygenic Traits Traits that are controlled by multiple genes
Ex. height, weight, hair color, skin color

44. Skin Color
At least 7 different Genes make up skin color!

45. Eye Color

46. Sex-Linked Traits Carried on sex chromosomes (X and Y)
Most are recessive & on X chromosome
Color blindness, hemophilia

47. Sex-Linked Traits (cont.)
Affect men more than women
Men have only one X chromosome
Women can be carriers or affected

48. Sex-Linked Traits (cont.)
Sex Chromosomes for Female are:
X X
Sex Chromosomes for male are:
X Y

49. Sex-Linked Traits (cont.)
Fruit fly eye Color
R = Red eyes
r or w = white eyes
What is the probability of having a white eyed male?

50. Sex-Linked Traits (cont.)
A female fruit fly that is homozygous for red eyes mates with a male who has white eyes. What is the probability of having a female with white eyes?

51. Sex-Linked Traits (cont.)
A woman who is heterozygous for colorblindness has a son with a man who is colorblind. What is the probability that their son will be colorblind?

52. Polyploidy One or more extra chromosomes.
2n = normal number of chromosomes
Humans 46 chromosomes/ 23 pairs
1n = half the number of chromosomes
Sperm or Egg 23 chromosomes

53. Polyploidy Triploid (3n)– 3 complete sets of chromosomes. 46 + 23 = 69
Most plants; sometimes earthworms and goldfish; Humans always Lethal!

54. Studying Inheritance
Karyotype: photographic arrangement of a complete set of chromosomes

55. FROM THIS……..

56. ……TO THIS

57. Studying Inheritance
Chromosomes # 1-22 are autosomes (body chromosomes)
Chromosomes # 23 are the sex chromosomes.
Looking at a karyotype you can see a chromosome mutation.

58. ______Chromosomal________ Abnormalities
1 infant in 200 newborns has a chromosomal abnormality
28% of first trimester miscarriages have a chromosomal abnormality
Abnormalities in larger chromosomes don’t usually survive 58

59. ____________________________: Change in the ______________ or
CHROMOSOMAL MUTATIONS
____________________________:
Change in the ______________ or
____________ of chromosomes
structure
number

60. Homologous chromosomes ________________ during MEIOSIS
= _________________________
One cell gets 2 copies of
the chromosome the
other cell gets none.
fail to separate
NONDISJUNCTION

61. Nondisjunction 61

62. Nondisjunction can lead to:
Down Syndrome
Turner’s Syndrome
Klinefelter’s Syndrome

63. Down syndrome (=____________)
TRISOMY 21 63

64. Down syndrome (Trisomy 21)
1 in 800 births
Similar facial features
Slanted eyes
Protruding tongue 64

65. Turner syndrome 65

66. Turner syndrome ____ XO 1 in 5000 births
Females have only one X chromosome
Small size
Slightly decreased intelligence
35% have heart abnormalities
Hearing loss common
Broad chest
Reproductive organs don’t develop at puberty
Can’t have children 66

67. Klinefelter syndrome XXY67

68. Klinefelter syndrome 1 in 1000 births Males have extra X chromosomes
(Can be XXy, XXXy, or XXXXy)
Average to slight decrease in intelligence
Small testes/can’t have children
Usually not discovered until puberty when don’t mature like peers 68

69. Obtaining Fetal Cells ~Making a Karyotype~
1.Amniocentesis: sample of fluid around baby
2.Chorionic Villus Sampling: sample of tissue from the placenta
Karyotyping is a technique that can be used at any age. There are many ways to obtain a sample, however we will focus on two samples commonly used to obtain fetal samples. These fetal karyotypes can help determine chromosomal abnormalities before a baby is even born.
Amniocentesis
Amniocentesis is a process done to obtain a sample from an infant to be karotyped. It is normally considered in situations in which parents are at risk of having an infant with a genetic disorder. This includes situations of advanced maternal age, parents who have had a previous child with chromosomal problems and parents with the presence of a chromosomal translocation or rearrangement. More than 100 biochemical disorders can be tested through amniocentesis. (2)
During this procedure, amniotic fluid, which surrounds the baby and provides protection, is taken from the amniotic sac by a long needle inserted into the woman’s abdomen. The body will make more amniotic fluid to replace the fluid removed in the procedure. (2)
Chorionic Villus Sampling
Chorionic villus sampling is another procedure used to help determine genetic disorders present in the fetus. While this procedure is recommended for women with the same risk factors as in amniocentesis, it is more specialized than amniocentesis and can be done earlier in pregnancy (during about weeks of pregnancy). (2)
During this procedure, a small, flexible catheter is inserted through the vagina or abdomen into the uterus and is guided by ultrasound images. A sample is taken from the chorionic villus, the fetal tissue that forms part of the placenta, by suction. (2)

70. Amniocentesis

71. Chorionic Villus Sampling

72. Studying Inheritance (cont.)
Pedigree: chart that tracks the inheritance of a trait through multiple generations

73. F1 = Offspring of P generation F2 = Offspring of F1 generation
Generation Symbols
P = Parental
F1 = Offspring of P generation
F2 = Offspring of F1 generation

74. Generation Symbols (cont.)
P Generation
F1 Generation
F2 Generation

75. Interpreting the Pedigree
Female
Carrier
Male
Affected

76. Dominant Disorder Example:

77. Recessive Pedigree Example:

78. Create A Pedigree:
One couple has a son and a daughter with normal pigmentation. Another couple has one son and two daughters with normal pigmentation. The daughter from the first couple has three children with the son of the second couple. Their son and one daughter have albinism; their other daughter has normal pigmentation.