1. Genetics Yeah-ya! -You need an individual whiteboard for you and a big whiteboard for your group

2. PRACTICE E = Free ear lobes e = attached ear lobes Cross a heterozygous free-eared male with a woman with attached ear lobes

3. ee Ee ee e E Genotypic Ratio : 2:2 EE – 0 Ee – 2 (50%) Phenotypic Ratio : 2:2 Free – 2 (50%) Attached – 2 (50%) ee Ee e e E

4. Draw the other possible crosses for this gene Use other possible genotypes

5. Punnett Square Trends

6. What process is a punnett square showing (predicting)?

7. EEEE EEEE EeEeEeEe eeeeeeee E e E E E E E e e e e e Geno – 4:0 Pheno – 4:0 Geno – 4:0 Pheno – 4:0 Geno – 4:0 Pheno – 4:0

8. EEEe EEEe EEEeEeee EeeeEeee E e E E e E e E e e e E Geno – 2:2 Pheno – 4:0 Geno – 2:2 Pheno – 2:2 Geno – 1:2:1 Pheno – 3:1

9. EE Ee ee E E E e e e Geno – 1:0 Pheno – 1:0 Geno – 1:0 Pheno – 1:0 Geno – 1:0 Pheno – 1:0

10. EEEe EEEeEeee Eeee E e E e E e E e e E Geno – 1:1 Pheno – 2:0 Geno – 1:1 Pheno – 1:1 Geno – 1:2:1 Pheno – 3:1

11. Independent vs. Dependent Assortment

12. It’s all about Probability

13. Old School Thinking

14. Mendel

15. Why Peas? Chosen for its 7 easily distinguishable characteristicsChosen for its 7 easily distinguishable characteristics Short life spanShort life span SmallSmall Large number of offspringLarge number of offspring Easy to self or cross fertilizeEasy to self or cross fertilize

17. Mendel’s Process

19. 4 Key Findings Characters (traits) are influenced by alleles (different forms of the same gene) Each organism inherits 2 “factors” (alleles) for each trait – one from each parent One allele will dominate over the recessive one Alleles segregate during gamete production

22. SEED SHAPE SEED COLOR CHROMOSOMES LETTERS are ALLELES

23. THREE DIFFERENT POSSIBILITIES FOR A GENE HOMOZYGOUS DOMINANT HOMOZYGOUS RECESSIVE HETEROZYGOUS DOMINANT

24. MEIOSIS 4 CELLS WITH ‘R’ ALLELE FOR THIS GENE

25. How did Mendel find true-breeding plants? Any ideas

26. Testcross

27. What does it mean to be dominant?

28. Different types of inheritance

29. Complete Dominance – 50 copies of the functional protein gives the same effect as 100 copies (haplosufficiency) –PKU (genetic disorder where phenylalanine cannot be broken down – missing enzyme) Can cause mental retardation if untreated

30. Incomplete Dominance – 50 copies is not sufficient (Flower color in snapdragons) –FF – produces 100 red pigment molecules (very dense) – seen as red –Ff – produces 50 red pigment molecules (less dense) – seen as pink –ff – produces no red pigment molecules – seen as white

32. What you should know Homozygous/HeterozygousGenotype/PhenotypeDominant/RecessiveAllele Punnett Square Complete/Incomplete/Codominance Blood Types Sex-linked Genes

33. Codominance – 2 different proteins can be made by a single gene (A&B blood types) –When the A allele is present – A antigens are made and seen on the RBC surface –When the B allele is present – B antigens are made and seen on the RBC surface –When neither are present – no antigens are present –When both alleles are present – both antigens are seen on the surface of the RBC’s

36. Multiple Alleles – more than 2 possible alleles for a gene

38. Rh Factor – normal autosomal inheritance

39. Blood Types and Personality According to the Japanese... Type OYou want to be a leader, and when you see something you want, you keep striving until you achieve your goal. You are a trendsetter, loyal, passionate, and self-confident. Your weaknesses include vanity and jealously and a tendency to be too competitive. Type AYou like harmony, peace and organization. You work well with others, and are sensitive, patient and affectionate. Among your weaknesses are stubbornness and an inability to relax. Type BYou're a rugged individualist, who's straight forward and likes to do things your own way. Creative and flexible, you adapt easily to any situation. But your insistence on being independent can sometimes go too far and become a weakness. Type ABCool and controlled, you're generally well-liked and always put people at ease. You're a natural entertainer who's tactful and fair. But you're standoffish, blunt, and have difficulty making decisions.

40. Today Have out –ch. 14 reading guide –Incomplete WS –Blood Type WS

41. Couple other thoughts on blood types Rh+ can receive Rh- blood, but Rh- cannot receive Rh+ blood (negative person’s immune system attacks the Rh factor present in the + blood) When a person with A blood receives O blood, the anti-A and anti-B molecules that are received from the O blood are not at a high enough concentration to affect the person with A blood

42. B-

43. Other inheritance patterns Need to know –The definition of the words –An example seen in nature

44. Epistasis When 2 or more genes control 1 phenotype (gene-gene interactions) Remember – normal dihybrid cross of 2 heterozygotes give you a 9:3:3:1 phenotypic ratio If 2 genes show epistasis, this ratio can change

45. Examples Kernel Color in wheat If 1 allele of gene A or gene B is dominant, the wheat is colored The only individual that is white is aabb Ratio 15:1 when 2 dihybrids are crossed (usually a 9:3:3:1 ratio) This does not change how the Punnett square is set-up but rather how it is interpreted

46. Flower color in sweet pea Both genes need a dominant (functional) allele to create anthocyanin (color) Ratio is 9:7

47. Albinism in mice B gene – determines if mice pigment color is brown or black C gene – determines if any pigment is present at all Creates a 9:3:4

50. Pleiotropy When 1 gene has multiple phenotypic effects Examples –Vestigial wing gene also causes changes in the balancers, the direction of bristles, and the number of eggs in the ovaries –GAPDH – 1 st known for the metabolism of glucose, also known for the regulation of protein translation, aiding in the transport of RNA to cytoplasm, aiding in DNA repair and DNA replication –Diseases such as sickle-cell anemia are caused by a mutation at 1 gene yet have multiple phenotypic consequences

52. Polygenic (quantitative) Traits When multiple genes aid in the expression of a single trait Examples – height, coloration (skin color, eye color) Assumptions –Effects of each gene is additive –No dominance (incomplete dominance) –No linkage

53. Plant Height in Tobacco Plants 7 classes of height – 0 to 6 (depending on number of dominant alleles the plant has at 3 separate genes (A, B, and C) AABBCC (6) x aabbcc (0) yields all intermediate (3) heterozygotes AaBbCc Let’s look at the F1 cross –AaBbCc x AaBbCc

54. ABCABcAbCaBCAbcabCaBcabc ABCAABBCCAABBCcAABbCCAaBBCCAABbCcAaBbCCAaBBCcAaBbCc ABcAABBCcAABBccAABbCcAaBBCcAABbccAaBbCcAaBBccAaBbcc AbCAABbCCAABbCcAAbbCCAaBbCCAAbbCcAabbCCAaBbCcAabbCc aBCAaBBCCAaBBCcAaBbCCaaBBCCAaBbCcaaBbCCaaBBCcaaBbCc AbcAABbCcAABbccAAbbCcAaBbCcAAbbccAabbCcAaBbccAabbcc abCAaBbCcAaBbCcAabbCCaaBbCCAabbCcaabbCCaaBbCcaabbCc aBcAaBBCcAaBBccAaBbCcaaBBCcAaBbccaaBbCcaaBBccaaBbcc abcAaBbCcAaBbccAabbCcaaBbCcAabbccaabbCcaaBbccaabbcc

55. Polygenic Inheritance Graph

57. What effect does environment have on genes? –Environment can affect how an allele is expressed –Temperature controls hair color in the arctic hare Norm of reaction – the phenotypic range associated with a specific genotype –Some genes have no range (ABO blood types)

59. So Far Mendel’s experiments 1 Trait Cross (TT x tt) 2 Trait Cross (GGTT x ggtt) Incomplete Dominance Codominance Multiple Alleles (Blood types) EpistasisPleiotropyPolygenicSex-linkedPedigrees

61. Inheritance Patterns Autosomal inheritance – both male and female have 2 copies of each gene –1 from each parent Sex linked (X-linked usually) – females have 2 copies and males only have 1 copy of the gene –Females – get an X chromosome from each parent –Males – get their X from their mom and their Y from their dad

62. Genes on the Male Sex Chromosomes DOMINANT RECESSIVE XHXHXHXH XHXhXHXh XHYXHYXhYXhY XHXH Y XHXH XhXh

63. IV. S ex-linked Inheritance A.C olor Blindness – recessive, linked to the X chromosome 1. C annot distinguish between colors like red and green 2. G enotypes: a.X CXC – normal female, non carrier b.X CXc’ – normal female, carrier (may pass recessive allele on to sons and/or daughters) c.X c’Xc’ – colorblind female (will pass recessive allele to all children d.X CY – normal male e.X c’Y – colorblind male (will pass recessive allele to daughters only)

64. Thought question Information –Turn in Fly Lab –Test – Tuesday 1/26 –We will start new material Thursday/Friday Parental cross – BBTT x bbtt F1 Cross results –Brown, Tall plants – 47 –Brown, short – 3 –White, tall – 3 –White, short – 47 How far apart are these two genes

65. Pedigrees Illustrate Inheritance A pedigree is a graphic representation of genetic inheritance. It is a diagram made up of a set of symbols that identify males and females, individuals affected by the trait being studied, and family relationships. 14-1Human Heredity

66. Male Female Affected male Affected female Mating Parents Siblings Known heterozygotes for recessive allele Death Pedigrees Illustrate Inheritance 14-1Human Heredity

67. Female Male ? I II III IV 1 2 1 1 1 3 2 2 2 4 3 3 5 4 4 5 Pedigrees Illustrate Inheritance In a pedigree, a circle represents a female; a square represents a male. –Highlighted circles and squares represent individuals showing the trait being studied. –Circles and squares that are not highlighted designate individuals that do not show the trait. 14-1Human Heredity

68. Pedigrees Illustrate Inheritance A half-shaded circle or square represents a carrier, a heterozygous individual. 14-1Human Heredity

69. Pedigrees Illustrate Inheritance A horizontal line connecting a circle and a square indicates that the individuals are parents, and a vertical line connects parents with their offspring. Each horizontal row of circles and squares in a pedigree designates a generation, with the most recent generation shown at the bottom. The generations are identified in sequence by Roman numerals, and each individual is given an Arabic number. 1 2 1 1 1 32 2 2 4 3 3 5 4 4 5 ? I II III IV 14-1Human Heredity

70. dd Dd DD Dd

71. DD Dd dd

72. Hemophilia pedigree beginning with Queen Victoria

73. Pedigrees Square – male Circle – female Shaded – has the trait you are studying Unshaded – has the other form of the gene Partial shading – carrier (sex-linked), could be heterozygous for autosomal

74. Warm-up Have out the pedigree sheet, ch. 14 reading guide, and the genetics review sheet Turn in ch. 15 reading guide to the front tray Pick up a disease chart and an AP Lab 3 handout from the front

75. Reminders TEST – next Wednesday AP Lab 3 starting tomorrow –Read through the background info tonight –Go through the lab bench tutorial Quiz on Monday covering –Crosses – 1 trait, 2 trait, sex-linked, blood types, incomplete/codominant, linked genes, recombination frequency, gene mapping Science fair judges – get 5 th period teacher to sign the permission slip

76. For AP Lab 3 Have to determine inheritance patterns for 4 traits Could be –Linked/unlinked –Sex-linked –Lethal (HH offspring do not develop)

77. So Far Mendel’s experiments 1 Trait Cross (TT x tt) 2 Trait Cross (GGTT x ggtt) Incomplete Dominance Codominance Multiple Alleles (Blood types) EpistasisPleiotropyPolygenicSex-linkedPedigrees

78. Add these words to your review Huntington’s disease Tay sach’s disease Cystic fibrosis Down’s syndrome Turner’s syndrome Klinefelter’s syndrome HemophiliaColorblindness Complete dominance Gametes Rh +/- factor – autosomal Genomic Imprinting

79. Go over pedigree sheet

80. Today We will look at: –Linked vs unlinked genes –Types of mutations and the diseases that arise from them

81. Genetic recombination Crossing over Genes that DO NOT assort independently of each other Genetic maps The further apart 2 genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency Linkage maps Genetic map based on recombination frequencies

82. Unlinked Autosomal Genes Rr Y y

83. Linked Genes Rr Yy RYry RYRRYYRrYy ryRrYyrryy 3 round, yellow : 1 wrinkled, green

84. Crossing over can create recombinants

85. Hypothetical Linked Gene Data Round, Yellow – 93 Round, Green – 7 (recombinants) Wrinkled, Yellow – 7 (recombinants) Wrinkled, Green – 93 Recombination Frequency = recombinant total / total offspring 14/200 = 7%

86. Gene mapping Each % pt of recombinants = 1 map unit on the chromosome R is 7 map units away from Y RY 7 map units

87. Linked genes

91. Genes on the same chromosome that are 50 m.u.’s apart behave like unlinked genes – They are said to be genetically unlinked

92. Gene mapping worksheet After you are done, research the disease I assign you (using the book and/or smartphones) –Fill out the appropriate row on the disease chart – try to condense each box into a short phrase that you think is the essential info Add “prenatal testing” to the treatment box –You will present your findings (1-2 min) to the class Become an expert at 1 of the diseases assigned

93. Mutations

94. Mutations Mutations are defined as “a sudden genetic change in the DNA sequence that affects genetic information”. They can occur at the molecular level (genes) and change a single gene, or at the chromosome level and affect many genes.

95. Most mutations are “spontaneous” and have no known cause. Most are “silent” and have no effect on the organism. Things that can cause mutations are called “mutagens”. Known mutagens are ultraviolet light, cigarette smoking, certain chemicals like PCB’s.

96. Types of Mutations – mistakes a)Gene (point) Mutations – occur at a single gene i. Germ mutations – occur in gametes. Inheritable (colorblindness, hemophilia) ii. Somatic mutations – affect body cell, not inheritable (environmental factor of cancer) b)Chromosomal mutations – most drastic, change in structure or # of chromosomes (Downs’ syndrome)

97. III. P oint Mutations a)S ubstitution – one base exchanges for another, affects 1 amino acid (Ex. GCA-TCA  GCT-TCA b)I nsertion (frame shift) – 1 base is inserted, affects several amino acids Ex. (GCA-TCA  GCA-GTC-A c)D eletion (frameshift)– base is removed, affects several amino acids Ex. (GCA-TCA  GCT-CA

98. Point Mutation

100. Chromosomal errors, I Nondisjunction: members of a pair of homologous chromosomes do not separate properly during meiosis I or sister chromatids fail to separate during meiosis II Aneuploidy: chromosome number is abnormal Monosomy~ missing chromosome Trisomy~ extra chromosome (Down syndrome) Polyploidy~ extra sets of chromosomes

101. Aneuploidy Polyploidy

102. Other chromosomal errors Alterations of chromosomal structure: Deletion: removal of a chromosomal segment Duplication: repeats a chromosomal segment Inversion: segment reversal in a chromosome Translocation: movement of a chromosomal segment to another

103. Disease Chart We need to know what type of mutation causes certain diseases –Is the mutation dominant or recessive Dominant – new protein created overshadows the original protein

104. Today Have out: –AP Lab 3 – due on Thursday –Scratch paper Reminders –Quiz on Monday covering Crosses – 1 trait, 2 trait, sex-linked, blood types, incomplete/codominant, linked genes, recombination frequency, gene mapping –Ch. 14 reading guide – due Monday for 4pts extra credit on last test

105. Practice – Step 1 Two plants (RRtt and rrTT) mate and have offspring –R = roundr = wrinkled –T = tallt = short 2 of the F1 offspring then were mated together Draw 2 punnett squares –1 if the R and T genes were on different chromosomes (unlinked) –1 if the R and T genes were on the same chromosome (linked) Predict the phenotypic ratios for each situation

106. Phenotypic ratios Unlinked –Round, tall – 9/16 –Round, short – 3/16 –Wrinkled, tall – 3/16 –Wrinkled, short – 1/16 Linked –Round, tall – 2/4 –Round, short – 1/4 –Wrinkled, tall – 1/4 –Wrinkled, short – 0/4

107. Actual Results Round, tall – 96 Round, short – 47 Wrinkled, tall – 53 Wrinkled, short – 4 Calculate the recombinant (crossover) frequency %

108. Recombination Frequency = recombinant total / total offspring 4/ (96+47+53+4) = 4/200 = 2% These genes are 2 map units away from each other on the same chromosome

109. Let’s say that we studied other genes as well and found these recombination frequencies R/T – 4% R/G – 23 % R/Q – 11% G/Q – 12% G/T – 19%

110. 4 mu 7 mu 12 mu R T Q G

111. Today Turn in Ch. 14 to the front tray if you did it (optional) Have out disease chart (diseases not on quiz, but will be on test) Have out AP Lab 3

112. Reminders Test is on Wednesday Lab due on Thursday

113. AP Lab 3 Cross a ++ male with BlBl mutant female –Which ever phenotype is displayed is dominant Do the reverse cross (++ female X BlBl male) –If male and female have the same phenotypes, most-likely it is not sex-linked For 2 trait crosses

114. Diseases

115. Chi-squared

116. Genetics Problems

117. Today 1. Create 2 parents of whatever organism you choose (from the natural world or something made up) 2. Draw, label, and color 5 traits (1 is sex- linked) for each parent (one parent is going to be heterozygous for each trait)

118. 3. 2 parents with 5 traits (1 sex-linked) -1 parent has to be pure heterozygous (dominant for each trait) - The other parent can be up to you 4. Make 5 crosses a)Monohybrid – 1trait cross, non sex-linked b)Dihybrid – unlinked c)Dihybrid - linked d)Trihybrid e)Sex-linked 5. For each cross a)Assign letters for trait b)Write parental cross (genotypes) c)Write the gametes each parent can possibly give their children d)Work the punnett square using those gametes e)Give me genotypic ratios and percentages f)Give me phenotypic ratios and percentages 6. Due on Tuesday

119. Genomic imprinting Def: a parental effect on gene expression Identical alleles may have different effects on offspring, depending on whether they arrive in the zygote via the ovum or via the sperm. Fragile X syndrome: higher prevalence of disorder and retardation in males

120. Bonus – answer after essays 1. What molecules do CDK’s need to bind with in order to be activated? 2. What checkpoint on the cell cycle does MPF allow a cell to go past? 3. What are the proteins that are released from cells to cause other cells to divide? 4. What is the phenomenon called when cells that are crowded stop dividing? 5. The spread of cancer cells to locations distant from their origin is called ________________.