1. Unit 6 Genetics
Chapters 14-15

3. Let me tell a story
Once upon a time* there was a monk who enjoyed gardening. He wondered why some plants were tall while others were short. He also wondered why some peas were green and others were yellow. So he started experimenting in his garden….
*1857

5. Basic terms Character- an inherited feature w/multiple variations
Trait- each variant
True breeding- create all offspring with the same traits
Hybridization- mating/crossing of 2 true-breeding individuals

6. Pic 14.2

9. Mendel’s 4 Hypotheses
1. alternate versions of genes (alleles) account for variations in inherited characters

10. Mendel’s 4 Hypotheses
2. for each character, an organism inherits two alleles, one from each parent.
3. If the two alleles differ, then the dominant allele is fully expressed in the organisms appearance, the recessive allele has no noticable effect on the organism’s appearance.

11. Mendel’s 4 Hypotheses
4. two alleles for each character segregate during gamete production
LAW OF SEGREGATION

12. Old Vocab reminder Homozygous Heterozygous Phenotype Genotype
Testcross- homozygous recessive + dominant trait (unk if it is homo or hetero)

13. Testcross

14. Dihybrid crosses Remember law of independent assortment
Every possible combination
What ratio of results is always produced with a dihybrid cross when homo. Dominant + homo recessive are used?
__________________

15. Pic 14.7

16. Practice Punnett Squares
Using the human traits discussed in class, we will make up scenarios and use punnett squares to solve the problems.

17. Using Math to skip punnett squares
Know your genotypes
PpYyRr x Ppyyrr
P= purple, p= white flowers
Y=yellow, y=green seeds
R=round, r=wrinkled seeds
2. Know the question: the probability of having 2 recessive traits
3. List all genotypes that would match this result
ppyyRr, ppYyrr, Ppyyrr, PPyyrr, ppyyrr

18. Probability lesson 2 traits- purple or white flowers
Chance the sperm will have purple allele = ½
Chance the sperm will have the white allele = ½
Same for ovum (egg)
For genotype pp
½ x ½ = ¼ probability that this genotype will form

19. When things aren’t so simple
Mendel used all traits that were simple dominant or recessive, this is not that common in complex organisms

20. INCOMPLETE DOMINANCE:
Heterozygous organisms have a phenotype between that of the parents.

21. Common Misinterpretation
Dominant means “able to overpower”
Dominant does NOT mean good OR more common
Polydactyly is dominant over 5 digits/appendage. 1/400 in US born with it
Some types of dwarfism also dominant over average height.

22. Codominance- human blood groups
3 groups based on presence of proteins
Proteins called M and N
Homozygous is M or N
Heterozygous is MN (both present)

24. Practice- blood type problems
Importance of blood types
Giving the wrong type can be deadly

25. Polygenic inheritance
Additive effect of several genes together
Quantitative characters- traits that show some point in a range instead of on/off
Human skin color
AABBCC- very dark
aabbcc- very light

28. Genetics and Environment
The environment can sometimes determine what phenotype shows up.
2 flowers with the same genotype
Different acidity
results in different
colors

29. Multifactorial
Genetics and environments influence the phenotype

30. Pedigrees

32. Informal Research Rubric Results will be presented and discussed in class and collected ___________
You DO NOT need to write a formal essay for this .
Name of Inherited Disorder _______________
Direct Known Cause of Disorder _____________
Prevalence of Disorder ____________
How is the disorder passed on to other individuals? _____
What does the disorder to do the human body? _________
Is there any treatment to help those affected by the disorder?________
Any particularly interesting facts you want to share? ____

33. Inherited Disorders Cystic fibrosis 1/25 caucasians is a carrier
Normal allele makes a membrane protein that functions in movement of chloride ions
Defective or absent in people with cystic fibrosis
Mucus builds up in lungs, digestive tract
More bacterial infections

35. Untreated- fatal by age 5
Treated- live into the 20’s, some longer

36. Tay Sachs disease
Dysfunctional enzyme fails to break down lipids in the brain
Infant seizures, blindness, loss of motor and mental skills
Unusually high number in pop. Ashkenazic Jews whose ancestors are from central europe
1/3600 in that pop, 100x more than other populations

37. Fatal within early childhood- 5 or younger.

38. Sickle cell anemia 1/400 african americans
Substitution of 1 amino acid in hemoglobin
Codominance- carriers have the sickle cell trait- get the symptoms when blood oxygen is low for a long time
Causes resistance to malaria

39. DOMINANT inherited diseases
ACHONDROPLASIA-
1/10,000 people
Most people are
homozygous recessive

40. HUNTINGTON’S DISEASE Degenerative disease of nervous system
No phenotype noticable until ages 35-45
Fatal, not reversible
Passed on because people have children before they know they have the disorder

42. Multifactoral Disorders
Heart disease
Diabetes
Cancer
Alcoholism
Manic depressive disorder

43. INDEPENDENT EVENTS
The probability of passing on a trait good, bad, or indifferent is the same for each offspring!

44. Testing for Carriers Is the future going to be like it is in Gattaca?
Should you have children if you have a 50% risk of passing on a genetic disorder?
Are you likely to inherit a disorder?

45. Amniocentesis

46. Amniocentesis Done at 14-16 weeks into pregnancy
Identify disorders from the amniotic fluid or fetal cells that are floating in the fluid
Results take 1-2 weeks

47. Chorionic Villus Sampling
Done at 8-10 weeks into pregancy
Placenta cells taken and divide very quickly
Results in 24 hours

48. Other pre-natal tests
Ultrasounds
fetoscopy

49. PKU and Newborn screening
Phenylkenonuria- 1/10,000 -1/15,000 births in U.S.
Inability to break down amino acid phenylalanine
Too much of it can build up and result in mental retardation
Solution- diet low in phenylalanine

51. CHAPTER 15 Chromosomal Basis of Inheritance
In 1900 scientists doing research on plants discovered that Mendel had recorded the same discoveries about inheritance 35 years earlier.
LESSON OF THE DAY- DO YOUR RESEARCH FIRST!!!!!

52. Chromosomal Theory of Inheritance
The genes Mendel studied have specific loci on chromosomes
Chromosomes independently assort and segregate during meiosis

53. The first experimental Mutant in Thomas Morgan’s experiments

54. Drosophila melanogaster
Fruit fly
Harmless
Breed quickly and in large numbers
3 pairs autosomes, 1 pair sex chromosomes
Wild type has red eyes, the “normal” phenotype

56. SAY CHEESE!!
WILD TYPE

57. Sex Linked Traits
White eyes in flies had to be on the X chromosome

58. Morgan’s Evidence P- Male white eye mutant, Female wild type
F1- 100% red eye flies, male or female
White must be recessive
F2- 100% females red eyes,
50% males white eyes
50% males red eyes
Eye color trait must be on X chromosome

59. Punnett Square Evidence

60. Linked genes Each chromosomes has 100’s or 1000’s of genes
Genes often overlap on chromosomes
Genes near each other on a chromosome are usually passed on together as a group

62. Genetic Recombination
Production of offspring with new combinations of traits
Parental types- offspring that have the same phenotype as parents
Recombinants- offspring with different phenotypes as parents

63. YyRr x yyrr Y- yellow R-round y-green r- wrinkled
Complete the punnett square to see what the seeds of the next generation will look like.
How many are recombinants? How many are the parental types?

64. Correct Results 50% recombinants
Therefore 50% frequency of recombination
Any 2 genes on different chromosomes have this recomb. frequency

65. Linked genes can become recombinant in crossing over

66. Genetic maps
Alfred Sturdevant calculated where genes were based on recombinant frequencies
Closer together = smaller frequency of recomb.
Called Linkage Maps

67. 1 map unit= 1% recombination frequency
Aka centimorgan
Genes on 1 chromosome with 50% r.f. or higher are equivilent to being on different chromosomes.

68. Cytological maps
Show actual location of genes on chromosome based on visible traits

69. Mapping Human Genes: HGP
I have a more updated human gene map in the classroom…but still several years old.

70. Sex Chromosomes
X and Y rarely cross over and do not match but count as homologous chromosomes
Gene SRY discovered 1990
w/o SRY gonads form into ovaries
SRY is a trigger causing many other genes to operate

71. Not all organisms use the XY system, but they have variations in sex chromosomes to identify genders.

72. Sex Linked Traits-aka X linked traits
On X chromosome resulting is distinct patterns of expression in Males vs. females

73. Trends in Sex Linked traits
If the trait is sex linked and recessive you will see it more in males because they only have 1 x chromosome
Less common in females because they can inherit the dominant allele and hide the recessive trait

74. Human Sex Linked Traits
Color blindness
Hemophilia
Duchenne muscular dystrophy

75. Hemophilia records

76. X Inactivation
Females have 2 X chromosomes, but one condenses and becomes a Barr Body
Most genes on barr body are never activated
At the time of X inactivation each cell present randomly “assigns” one X to become the barr body.
Therefore not all cells show the same phenotype

78. How is X inactivated? Methyl group (CH3) attached to cytosine in DNA
Only one X has XIST gene (X inactive specific transcript)
Causes the DNA to be covered in RNA
Starts the inactivation
Still don’t know it all though

79. Chromosome errors
Nondisjunction- tetrads/chromatids fail to separate in Meiosis I or II
Aneuploidy- abnormal # chromo.
Trisomic- 3 copies of a chromo.
Monosomic- only 1 copy of a chromo.
Polyploidy- more than 2 complete chromo. Sets (common in plants)

81. Mutations to Chromosome structure

82. Specific Cases Down Syndrome- trisomy 21 Klinefelter Syndrome- XXY
Turner Syndrome- XO
Cri du Chat- deletion in chromosome 5, but normal 46 chromo.
Chronic Myelogenous Leukemia- part of #22 switched with part of #9

83. More complications
Sometimes the phenotype depends on which parent provided the allele

84. Prader Willi and Angelman syndromes
Both caused by deletion of a specific section of #15
Prader-Willi- deletion from father
Mental retardation, obesity, short stature, small hands and feet
Angelman- deletion from mother
Spontaneous uncontrollable laughter, jerky movements, motor skills problems, mental disabilitiesa

85. Genomic imprinting Allele on one chromosome is silenced
Caused by methylation, same as X inactivation

86. Fragile X Syndrome Piece of the X chromosome is dangling on
1/1500 males, 1/2500 females
The most common genetic cause of mental retardation
More commonly inherited from mom

87. Passing On Mitochondrial DNA
Does not follow mendelian rules
Passed on from mother
Rare human disorders caused by this
Mitochondrial myopathy- weakness, intolerance of exercise, muscle deterioration
May contribute to alzheimers disease

88. Clearly, we could spend more time on genetics
Clearly, we could spend more time on genetics! But, I have MUCH more to cover in the world of biology this year!
This is a summary of what the college boards states is on the AP exam.