1. Mendel and the Gene Idea

2. Inheritance The passing of traits from parents to offspring.
Humans have known about inheritance for thousands of years.

3. Genetics The scientific study of the inheritance.
Genetics is a relatively “new” science (about 150 years).

4. Genetic Theories 1. Blending Theory -
traits were like paints and mixed evenly from both parents.
2. Incubation Theory -
only one parent controlled the traits of the children.
Ex: Spermists and Ovists

5. 3. Particulate Model -
parents pass on traits as discrete units that retain their identities in the offspring.

6. Gregor Mendel
Father of Modern Genetics.

7. Mendel’s paper published in 1866, but was not recognized by Science until the early 1900’s.

8. Reasons for Mendel's Success
Used an experimental approach.
Applied mathematics to the study of natural phenomena.
Kept good records.

9. Mendel was a pea picker.
He used peas as his study organism.

10. Why Use Peas? Short life span. Bisexual. Many traits known.
Cross- and self-pollinating.
(You can eat the failures).

11. Cross-pollination Two parents.
Results in hybrid offspring where the offspring may be different than the parents.

13. Self-pollination One flower as both parents. Natural event in peas.
Results in pure-bred offspring where the offspring are identical to the parents.

14. Mendel's Work
Used seven characters, each with two expressions or traits.
Example:
Character - height
Traits - tall or short.

15. Monohybrid or Mendelian Crosses
Crosses that work with a single character at a time.
Example - Tall X short

16. P Generation
The Parental generation or the first two individuals used in a cross.
Example - Tall X short
Mendel used reciprocal crosses, where the parents alternated for the trait.

17. Offspring F1 - first filial generation.
F2 - second filial generation, bred by crossing two F1 plants together or allowing a F1 to self-pollinate.

21. Another Sample Cross P1 Tall X short (TT x tt) F1 all Tall (Tt)
F tall to 1 short
(1 TT: 2 Tt: 1 tt)

22. Results - Summary
In all crosses, the F1 generation showed only one of the traits regardless of which was male or female.
The other trait reappeared in the F2 at ~25% (3:1 ratio).

23. Mendel's Hypothesis
1. Genes can have alternate versions called alleles.
2. Each offspring inherits two alleles, one from each parent.

24. Mendel's Hypothesis
3. If the two alleles differ, the dominant allele is expressed. The recessive allele remains hidden unless the dominant allele is absent.
Comment - do not use the terms “strongest” to describe the dominant allele.

25. Mendel's Hypothesis
4. The two alleles for each trait separate during gamete formation. This now called: Mendel's Law of Segregation

26. Law of Segregation

27. Mendel’s Experiments
Showed that the Particulate Model best fit the results.

28. Vocabulary Phenotype - the physical appearance of the organism.
Genotype - the genetic makeup of the organism, usually shown in a code.
T = tall
t = short

30. Helpful Vocabulary
Homozygous - When the two alleles are the same (TT/tt).
Heterozygous- When the two alleles are different (Tt).

31. 6 Mendelian Crosses are Possible
Cross Genotype Phenotype
TT X tt all Tt all Dom
Tt X Tt TT:2Tt:1tt Dom: 1 Res
TT X TT all TT all Dom
tt X tt all tt all Res
TT X Tt TT:1Tt all Dom
Tt X tt Tt:1tt Dom: 1 Res

32. Test Cross
Cross of a suspected heterozygote with a homozygous recessive.
Ex: T_ X tt
If TT - all dominant
If Tt - 1 Dominant: 1 Recessive

34. Dihybrid Cross Cross with two genetic traits.
Need 4 letters to code for the cross.
Ex: TtRr
Each Gamete - Must get 1 letter for each trait.
Ex. TR, Tr, etc.

35. Number of Kinds of Gametes
Critical to calculating the results of higher level crosses.
Look for the number of heterozygous traits.

36. Equation
The formula 2n can be used, where “n” = the number of heterozygous traits.
Ex: TtRr, n=2
22 or 4 different kinds of gametes are possible.
TR, tR, Tr, tr

37. Dihybrid Cross TtRr X TtRr Each parent can produce 4 types of gametes.
TR, Tr, tR, tr
Cross is a 4 X 4 with 16 possible offspring.

38. Results 9 Tall, Red flowered 3 Tall, white flowered
3 short, Red flowered
1 short, white flowered
Or: 9:3:3:1

39. Law of Independent Assortment
The inheritance of 1st genetic trait is NOT dependent on the inheritance of the 2nd trait.
Inheritance of height is independent of the inheritance of flower color.

41. Comment Ratio of Tall to short is 3:1 Ratio of Red to white is 3:1
The cross is really a product of the ratio of each trait multiplied together (3:1) X (3:1)

42. Probability
Genetics is a specific application of the rules of probability.
Probability - the chance that an event will occur out of the total number of possible events.

44. Genetic Ratios
The monohybrid “ratios” are actually the “probabilities” of the results of random fertilization.
Ex: 3:1
75% chance of the dominant
25% chance of the recessive

45. Rule of Multiplication
The probability that two alleles will come together at fertilization, is equal to the product of their separate probabilities.

46. Example: TtRr X TtRr The probability of getting a tall offspring is ¾.
The probability of getting a red offspring is ¾.
The probability of getting a tall red offspring is ¾ x ¾ = 9/16

47. Comment
Use the Product Rule to calculate the results of complex crosses rather than work out the Punnett Squares.
Ex: TtrrGG X TtRrgg

48. Solution “T’s” = Tt X Tt = 3:1 “R’s” = rr X Rr = 1:1
“G’s” = GG x gg = 1:0
Product is:
(3:1) X (1:1) X (1:0 ) = 3:3:1:1

49. Tips for Dihybrid Problems
Identify all of the alleles that can be identified from the phenotypes of the parents or kids.
Work from the monohybrid ratios to solve for the missing alleles.

50. Variations on Mendel 1. Incomplete Dominance 2. Codominance
3. Multiple Alleles
4. Epistasis
5. Polygenic Inheritance

51. Incomplete Dominance
When the F1 hybrids show a phenotype somewhere between the phenotypes of the two parents.
Ex. Red X White snapdragons
F1 = all pink
F2 = 1 red: 2 pink: 1 white

53. Result No hidden Recessive.
3 phenotypes and genotypes (Hint! – often a “dose” effect)
Red = CR CR
Pink = CRCW
White = CWCW

54. Another example

55. Codominance Both alleles are expressed equally in the phenotype.
Ex. MN blood group MM MN NN

56. Result No hidden Recessive.
3 phenotypes and genotypes (but not a “dose” effect)

57. Multiple Alleles When there are more than 2 alleles for a trait.
Ex. ABO blood group
IA - A type antigen
IB - B type antigen
i - no antigen

58. Result Multiple genotypes and phenotypes.
Very common event in many traits.

59. Alleles and Blood Types
Type Genotypes
A IA IA or IAi
B IB IB or IBi
AB IAIB
O ii

62. Comment Rh blood factor is a separate factor from the ABO blood group.
Rh+ = dominant
Rh- = recessive
A+ blood = dihybrid trait

63. Epistasis When 1 gene locus alters the expression of a second locus.
1st gene: C = color, c = albino
2nd gene: B = Brown, b = black

64. Gerbils

65. In Gerbils CcBb X CcBb Brown X Brown F1 = 9 brown (C_B_)
3 black (C_bb)
4 albino (cc__)

66. Result Ratios often altered from the expected.
One trait may act as a recessive because it is “hidden” by the second trait.

67. Epistasis in Mice

68. Problem Wife is type A Husband is type AB Child is type O
Question - Is this possible?
Comment - Wife’s boss is type O

69. Bombay Effect Epistatic Gene on ABO group.
Alters the expected ABO outcome.
H = dominant, normal ABO
h = recessive, no A,B, reads as type O blood.

70. Genotypes Wife: type A (IA IA , Hh) Husband: type AB (IAIB, Hh)
Child: type O (IA IA , hh)
Therefore, the child is the offspring of the wife and her husband (and not the boss).

71. Bombay - Detection
When ABO blood type inheritance patterns are altered from expected.

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73. Homework Readings – Chapters 14, 47
Lab – changed to Chi Square and other genetics.
Chapter 47 – Wed. 12/1
Chapter 14 – Fri. 12/3

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75. Polygenic Inheritance
Factors that are expressed as continuous variation.
Lack clear boundaries between the phenotype classes.
Ex: skin color, height

76. Genetic Basis Several genes govern the inheritance of the trait.
Ex: Skin color is likely controlled by at least 4 genes. Each dominant gives a darker skin.

78. Result Mendelian ratios fail. Traits tend to "run" in families.
Offspring often intermediate between the parental types.
Trait shows a “bell-curve” or continuous variation.

79. Genetic Studies in Humans
Often done by Pedigree charts.
Why?
Can’t do controlled breeding studies in humans.
Small number of offspring.
Long life span.

80. Pedigree Chart Symbols
Male
Female
Person with trait

81. Sample Pedigree

82. Recessive Trait
Dominant Trait

83. Human Recessive Disorders
Several thousand known:
Albinism
Sickle Cell Anemia
Tay-Sachs Disease
Cystic Fibrosis
PKU
Galactosemia

84. Sickle-cell Disease
Most common inherited disease among African-Americans.
Single amino acid substitution results in malformed hemoglobin.
Reduced O2 carrying capacity.
Codominant inheritance.

86. Tay-Sachs Eastern European Jews.
Brain cells unable to metabolize type of lipid, accumulation of causes brain damage.
Death in infancy or early childhood.

87. Cystic Fibrosis Most common lethal genetic disease in the U.S.
Most frequent in Caucasian populations (1/20 a carrier).
Produces defective chloride channels in membranes.

88. Recessive Pattern Usually rare. Skips generations.
Occurrence increases with consaguineous matings.
Often an enzyme defect.
Affects males and females equally.

89. Human Dominant Disorders
Less common then recessives.
Affects males and females equally.
Ex:
Huntington’s disease
Achondroplasia
Familial Hypercholesterolemia

90. Inheritance Pattern Each affected individual had one affected parent.
Doesn’t skip generations.
Homozygous cases show worse phenotype symptoms.
May have post-maturity onset of symptoms.

91. Genetic Screening
Risk assessment for an individual inheriting a trait.
Uses probability to calculate the risk.

92. General Formal R = F X M X D R = risk
F = probability that the female carries the gene.
M = probability that the male carries the gene.
D = Disease risk under best conditions.

93. Example Wife has an albino parent.
Husband has no albinism in his pedigree.
Risk for an albino child?

94. Risk Calculation Wife = probability is 1.0 that she has the allele.
Husband = with no family record, probability is near 0.
Disease = this is a recessive trait, so risk is Aa X Aa = .25
R = 1 X 0 X .25
R = 0

95. Risk Calculation Assume husband is a carrier, then the risk is:
R = 1 X 1 X .25
R = .25
There is a .25 chance that every child will be albino.

96. Common Mistake
If risk is .25, then as long as we don’t have 4 kids, we won’t get any with the trait.
Risk is .25 for each child It is not dependent on what happens to other children.

97. Carrier Recognition Fetal Testing Newborn Screening Amniocentesis
Chorionic villi sampling
Newborn Screening

98. Fetal Testing
Biochemical Tests
Chromosome Analysis

99. Amniocentesis Administered between 11 - 14 weeks.
Extract amnionic fluid = cells and fluid.
Biochemical tests and karyotype.
Requires culture time for cells.

101. Chorionic Villi Sampling
Administered between weeks.
Extract tissue from chorion (placenta).
Slightly greater risk but no culture time required.

103. Newborn Screening
Blood tests for recessive conditions that can have the phenotypes treated to avoid damage. Genotypes are NOT changed.
Ex. PKU

104. Newborn Screening Required by law in all states.
Tests 1- 6 conditions.
Required of “home” births too.

105. Multifactorial Diseases
Where Genetic and Environment Factors interact to cause the Disease.

106. Ex. Heart Disease
Genetic
Diet
Exercise
Bacterial Infection

107. Summary Know the Mendelian crosses and their patterns.
Be able to work simple genetic problems (practice).
Watch genetic vocabulary.
Be able to read pedigree charts.

108. Summary
Be able to recognize and work with some of the “common” human trait examples.