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1 Essential knowledge: The chromosomal basis of inheritance provides an understanding of the pattern of passage (transmission) of genes from parent to offspring

2 Objective: You will be able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. Do Now: Turn to page 206 in your textbook

3 Some genetic vocabulary Character: a heritable feature, such as flower color Genes code for characters Trait: a variant of a character, such as purple or white flowers Alleles are the alternative traits Turn to a partner and come up with 3 genes for human characteristics Provide 2 alleles for each

4 Individual Activity Create a drawing of a pea plant cell undergoing meiosis The cell contains the 4 chromosomes seen below during the G1 phase of the cell cycle. Follow the movements of the genes and alleles carefully. Include both cells of meiosis II Y = Yellow color y = Green color R = Round shape r = Wrinkled shape

5 Work with a partner Y = Yellow color y = Green color R = Round shape r = Wrinkled shape Do all of your gametes have a Y as opposed to a y? Find where in your drawings this occurred. Randomly put your finger on one of your gametes If your egg cell fused with your partners sperm cell, what color would the pea have? (This is fertilization) Repeat the process with another pair of gametes What percent chance is their in forming a zygote that would have yellow color? Green? How would the percentages change if R s were used?

6 Objective: You will be able to construct a representation that connects the process of meiosis to the passage of traits from parent to offspring. Do Now: Take out your drawings

7 Find someone that had different gametes than you Figure out exactly where in the drawings the difference began Randomly put your finger on one of your gametes If your egg cell fused with your partners sperm cell, what color AND shape would the pea have? (This is fertilization) Repeat the process with another pair of gametes What percent chance is their in forming a zygote that would be: Yellow AND Round Yellow and Wrinkled Green AND Round Green and Wrinkled Y = Yellow color y = Green color R = Round shape r = Wrinkled shape

8 Punnett Squares Rules of probability can be applied to analyze passage of single gene traits from parent to offspring YY x yy Law of Segregation YyRr x YyRr Law of Independent Assortment

9 Monohybrid Cross (Segregation) Refers to the mating of two heterozygous individuals involving one gene Yy x Yy Dihybrid Cross (Independent Assortment) Refers to the mating of two heterozygous individuals involving two genes YyRr x YyRr

10 Phenotype vs. Genotype Mate a pea plant that is heterozygous for pod shape with a plant that is homozygous recessive Mate a pea plant that is axial for flower position with one that is terminal. What do you need to know?

11 Figure 11.7 Technique The Testcross Dominant phenotype, unknown genotype: PP or Pp? Recessive phenotype, known genotype: pp Predictions If purple-flowered parent is PP Sperm p p or If purple-flowered parent is Pp Sperm p p Eggs P Pp Pp Eggs P Pp Pp P Pp Pp p pp pp Results or All offspring purple ½ offspring purple and ½ offspring white

12 Objective: You will be able to apply mathematical routines to determine patterns of inheritance. Do Now: A new way to solve genetic problems Turn to page 234 and try question 6(a). Work with a partner to complete the following problems in this order: 6 (b-d)

13 Pedigree charts can be used to determine Mendelian patterns of inheritance.

14 Figure 11.14a Key Male Female Affected male Affected female Mating Offspring, in birth order (first-born on left) 1st generation (grandparents) Ww ww ww Ww 2nd generation (parents, aunts, and uncles) Ww ww ww Ww Ww ww 3rd generation (two sisters) WW or Ww ww Widow s peak (a) Is a widow s peak a dominant or recessive trait? No widow s peak

15 Figure 11.14b Key Male Female Affected male Affected female Mating Offspring, in birth order (first-born on left) 1st generation (grandparents) Ff Ff ff Ff 2nd generation (parents, aunts, and uncles) 3rd generation (two sisters) FF or Ff ff ff Ff Ff ff ff FF or Ff Attached earlobe Free earlobe (b) Is an attached earlobe a dominant or recessive trait?

16

17 What would you look for in a pedigree chart to determine if a trait was dominant and not recessive? Does this trace a dominant or recessive trait?

18 What would you look for in a pedigree chart to determine if a trait was dominant and not recessive? Does this trace a dominant or recessive trait?

19 Objective: You will be able to solve problems involving sex-linked traits. Do Now: Draw a Punnett square that proves which gender is responsible for the sex of the child. List two examples of sex linked-traits in humans 5

20 Autosomes versus Sex Chromosomes

21

22 Sex-linked genes exhibit unique patterns of inheritance

23 Some traits are determined by genes on sex chromosomes Some traits are sex limited, and expression depends on the sex of the individual, such as: Milk production in female mammals Male pattern baldness in males Color Blindness Hemophilia In mammals and flies, the Y chromosome is very small and carries few genes Sex-linked genes reside on sex chromosomes (X in humans) In mammals and flies, females are XX and males are XY; as such, X-linked traits are always expressed in males

24

25 Objective: You will be able to apply mathematical routines to determine patterns of inheritance involving gene linkage. Do Now: Take out your meiosis drawings from a few last week

26 Gene Linkage Genes that are adjacent and close to each other on the same chromosome tend to move as a unit.

27 Gene Linkage A cell in G 1 How is this different from independent assortment? Y R y r

28 Are these two genes linked? Mate: YyRr x yyrr Start by drawing the chromosomes and their genes for the highlighted individual above OR Unlinked Linked If they are linked, what should the F 1 ratio be? If they are not linked what should the F 1 ratio be?

29 Experiment P Generation (homozygous) Wild type (gray body, normal wings) b b vg vg Double mutant (black body, vestigial wings) b b vg vg F 1 dihybrid testcross Wild-type F 1 dihybrid (gray body, normal wings) b b vg vg Homozygous recessive (black body, vestigial wings) b b vg vg If the two genes are on the same chromosome (linked), what is the expected F1 ratio

30 Figure 12.9b Experiment Testcross offspring Eggs b vg b vg b vg b vg Wild-type (gray-normal) Blackvestigial Grayvestigial Blacknormal? b vg Sperm b b vg vg b b vg vg b b vg vg b b vg vg PREDICTED RATIOS Genes on different chromosomes: Genes on same chromosome: 1 : 1 : 1 : 1 1 : 1 : 0 : 0 Results 965 : 944 : 206 : 185

31 Gene Linkage The probability that they will segregate as a unit is a function of the distance between them.

32 Which would show more crossing over? Y y Y R y r R r O R

33 The recombination frequency is the percentage of the offspring that were a result of crossing over Which scenario would produce offspring with the highest recombination frequency?

34 Objective: You will be able to pose questions about ethical, social or medical issues surrounding human genetic disorders. Do Now: Compile of list of human disorders that are linked to genetics

35 Certain human genetic disorders can be attributed to the inheritance of single gene traits or specific chromosomal changes, such as nondisjunction. Examples: Sickle cell anemia (rec.) Tay-Sachs disease(rec.) Huntington s disease (dom.) X-linked color blindness(rec.) Single gene traits Trisomy 21/Down syndrome Klinefelter s syndrome Nondisjunction

36 Figure Meiosis I Nondisjunction Meiosis II Nondisjunction Gametes n 1 n 1 n 1 n 1 n 1 n 1 n n Number of chromosomes (a) Nondisjunction of homologous chromosomes in meiosis I (b) Nondisjunction of sister chromatids in meiosis II

37 Figure Trisomy 22/Down Syndrome

38 Figure (a) Deletion (c) Inversion A deletion removes a chromosomal segment. An inversion reverses a segment within a chromosome. (b) Duplication (d) Translocation A duplication repeats a segment. A translocation moves a segment from one chromosome to a nonhomologous chromosome.

39 Many ethical, social and medical issues surround human genetic disorders. Examples Reproductive issues Civic issues such as: Ownership of genetic information Privacy Work with a partner to pose FIVE questions about ethical, social or medical issues surrounding human genetic disorders.

40 Objective: You will be able to explain deviations from Mendel s model of the inheritance of traits. Do Now:

41 Essential knowledge: The inheritance pattern of many traits cannot be explained by simple Mendelian genetics Many traits are the products of multiple genes and/or physiological processes. Examples include: Sex-linkage Incomplete dominance Codominance Polygenic inheritance How does this deviate from Mendel s patterns? Patterns of these traits don t follow ratios predicted by Mendel s laws. They can be identified by quantitative analysis where phenotypic ratios differ from predicted ratios.

42 Make some predictions of what you would expect if these example followed the inheritance pattern of Mendel.

43 How does this deviate from Mendel s patterns?? Predict what would happen in the F 2 generation.

44 Figure P Generation Incomplete Dominance Red C R C R Gametes C R C W White C W C W F 1 Generation Pink C R C W Gametes F 2 Generation ½ Eggs ½ C R C W ½ ½ C R C R C R C R C W ½ C W Sperm C R ½ C W C R C W C W C W

45 Red Bull RR White Cow WW Make some predictions of what you would expect if these example followed the inheritance pattern of Mendel.

46 Red Bull RR White Cow WW How does this deviate from Mendel s patterns? Predict what would happen in the F 2 generation. Roan Cattle

47 Figure (a) The three alleles for the ABO blood groups and their carbohydrates Allele I A I B i Carbohydrate A B none (b) Blood group genotypes and phenotypes Genotype I A I A or I A i I B I B or I B i I A I B ii Red blood cell appearance Phenotype (blood group) A B AB O

48 Figure AaBbCc AaBbCc Polygenic Inheritance 1 8 Sperm How would you know if a phenotype was likely controlled by many genes? Eggs Phenotypes: Number of dark-skin alleles:

49 Some traits result from nonnuclear inheritance Chloroplasts and mitochondria are randomly assorted to gametes and daughter cells; thus, traits determined by chloroplast and mitochondrial DNA do not follow simple Mendelian rules. In animals, mitochondrial DNA is transmitted by the egg and not by the sperm; as such, mitochondrial-determined traits are maternally inherited.

50 Figure 4.17 Mitochondrion Intermembrane space Outer membrane Free ribosomes in the mitochondrial matrix DNA Inner membrane Cristae Matrix 0.1 m

51 Figure 4.18 Chloroplast Ribosomes Stroma Inner and outer membranes Granum Thylakoid (a) Diagram and TEM of chloroplast DNA Intermembrane space 1 m 50 m Chloroplasts (red) (b) Chloroplasts in an algal cell

52 A poker-dealing machine is supposed to deal cards at random, as if from an infinite deck. In a test, you counted 1600 cards. What would be your expected values for each suit? You observed the following: Spades 404 Hearts 420 Diamonds 400 Clubs 376 Are these discrepancies too much to be random? Or are they in the realm of probability? Scientists use chi-square as a statistical method that assesses the goodness of fit between observed values and those expected.

53 Category (Suit) Spades Observed (o) Expected (e) (o-e) 2 /e Hearts Diamonds Clubs X 2 =

54 Spades ( ) 2 /400 = 0.04 Hearts ( ) 2 /400= 1.0 Diamonds ( ) 2 /400= 0.0 Clubs ( ) 2 /400= 1.44 X 2 = 2.48 So are these discrepancies too much to be random? Or are they in the realm of probability?

55

56 Objective: You will be able to use the chi square test to determine if there are significant differences between expected and observed results. Do Now:

57 In the garden pea, yellow cotyledon color is dominant to green, and inflated pod shape is dominant to the constricted form. In a dihybrid mating, the progeny appeared in the following numbers: 556 yellow, inflated 193 green, inflated 184 yellow constricted 61 green, constricted Total offspring is 994 Do these genes assort independently? Support your answer using Chi-square analysis.

58 Figure 12.UN03b Dihybrid x homozygous recessive mating

59 The Null Hypothesis A null hypothesis(h 0 ) is a hypothesis that says there is no statistical significance between the two variables. It is usually the hypothesis a researcher or experimenter will try to disprove or discredit. An alternative hypothesis is one that states there is a statistically significant relationship between two variables.

60 Let's say you feed chocolate to a bunch of chickens, then look at the sex ratio in their offspring. If you get more females than males, it would be a tremendously exciting discovery: female chickens are more valuable than male chickens in egg-laying breeds You might look at 48 offspring of chocolate-fed chickens and see 31 females and only 17 males. You need to ask "What's the probability of getting a deviation from the null expectation Only when that probability is low can you reject the null hypothesis. The goal of statistical hypothesis testing is to estimate the probability of getting your observed results under the null hypothesis.

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