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Heredity What is inheritance? ► Heredity or inheritance is the passing of something from one generation to another Perhaps you will inherit a large fortune one day! ► In this case, we are talking about inheriting traits Ex. If your parents both have dimples, it is likely that you will inherit dimples from them. ► Genetics is the science of heredity What are traits? ► Hair Color ► Eye Color ► Freckles ► Skin Color ► Widow’s Peak ► Hitchhiker’s Thumb ► Height Either/Or Traits ► Only two versions Freckles or no freckles Widow’s peak or straight hairline Brachydactyl or normal finger length ► Traits that ARE NOT either/or would be things like Eye Color Hair Color Height Gregor Mendel ► The father of modern genetics ► Mendel was a monk who worked with pea plants ► He fertilized the egg of one flower with the sperm from the pollen of another flower. This is called cross-fertilization. He wondered what color flower you would get from crossing a purple flower with a white flower Why Pea Plants? ► Reproduce quickly ► Many offspring ► Can easily control reproduction ► Many either/or observable traits What Mendel Discovered ► Mendel realized from his work with pea plants that some traits are dominant over others ► Principle of Dominance: a dominant trait masks or prevents expression of a recessive trait Dominant trait is represented by a capital letter Recessive trait is represented by a lower case letter Example: Dimples ► Dimples are dominant, represented by D ► Lack of dimples is recessive, represented by d ► If your mom gave you D and your dad gave you d: You would have Dd ► The capital D would be dominant over the lowercase d You would have dimples Mendel ► Mendel had to use several generations of pea plants to test his hypotheses P = parent generation F1 = offspring of the P generation F2 = offspring of the F1 generation ► Principle of Unit Characters: there are a pair of factors (or “characters”) for every trait Characters = GENES! PAIR of genes = one from each parent Mendel ► Law of Segregation: two genes separate (segregate) during gamete formation (meiosis) Each gamete receives only one gene for each trait ►Gametes are haploid Chromosome Theory of Heredity ► Walter Sutton (early 1900s): Mendel’s “factors” (genes) are carried on chromosomes ► Chromosome Theory of Heredity: genes are carried on chromosomes Each chromosome must carry hundreds of genes Important Vocabulary ► Allele: Each alternative form of a gene for a certain trait Ex. D or d ► Genotype: Combination of alleles for a given trait (i.e., what genes an organism has for a trait) Ex. Dd, dd, or DD ► Phenotype: Appearance of a trait (PHeno = PHysique or PHysical appearance) Ex. Dimples or no dimples Important Vocabulary ► Homozygous SAME allele (Pure): Having two of the Ex. DD or dd Homozygous dominant: having two of the dominant allele ►Ex. DD Homozygous recessive: having two of the recessive allele ►Ex. dd ► Heterozygous (Hybrid): Having two DIFFERENT alleles Ex. Dd Example: Freckles ► Two possible phenotypes for freckles are: Has Freckles (observable) No freckles (observable) ►A genotype for freckles is indicated by two versions of the freckle gene. The possible alleles (versions) using the first letter of the trait “f” are: F (dominant) = Has Freckles f (recessive) = No freckles ► Question: Using F and f, what are possible genotypes of the allele pair for freckles? Freckles: Genotypes & Phenotypes ►Question: Using F and f, what are possible genotypes of the allele pair for freckles? Genotype Phenotype (genes) (appearance) FF ====== has freckles Ff ====== has freckles ff ====== no freckles ►One dominant allele (F) is sufficient for its trait (has freckles) to be observable, but both alleles have to be recessive (f) for the recessive trait (no freckles) to be observable. Other examples of either/or traits in humans ► Hitchhiker’s thumb ► Widow’s peak ► Brachydactylia ► Cleft chin ► Attached or free hanging earlobes ► Interlocking fingers Probability ► Probability in genetics is the likelihood of an offspring receiving a trait ► How do we figure out the probability? Use a Punnett Square ►A chart that helps predict the possible combinations of genes among offspring The gametes are written across the top and down the side Potter’s Hair ► Harry has dark hair like his father, but his mom had red hair. Using the genotypes of rr (red hair) Rr (brown hair), RR (brown hair), what possible genotypes does each of the potters have? ► If Harry marries Ginny who has red hair, what are the possible genotypes of their children’s hair colors? Probability ► Product Law of Probability: the probability of 2 or more events occurring simultaneously is equal to the product of each occurring separately There is a 1 in 2 chance of flipping a coin and it landing on heads (½) Chance of flipping two coins and both of them landing on heads = ½ x ½ = ¼ chance Probability ► For a Punnett square with traits Yy x Yy, you expect: Genotype Ratio: 1:2:1 Phenotype Ratio: 3:1 ► The expected does not always match the actual ► The larger number of offspring, the more likely it is for the actual to match the expected Incomplete Dominance ► Neither allele is dominant or recessive ► When genes show incomplete dominance, the traits are BLENDED Ex. Red flowers crossed with white flowers make pink flowers RR – red Rr – pink rr - white Harry Potter Example: Fire Breathing Dragons the dragons in Harry Potter have fire-power alleles F (strong fire) and f (no fire) that follow incomplete dominance, what are the phenotypes for the following dragon-fire genotypes? Genotypes Phenotypes ► If FF Ff ff Strong Fire Moderate Fire No Fire Codominance ► Both traits are dominant and both are expressed Ex. A red haired cow crossed with a white haired cow makes a roan haired cow ► We use two different letters for the different alleles (both capitals) RR – red WW – white RW - roan Harry Potter Example: Merpeople ► If merpeople have tail color alleles B (blue) and G (green) that follow the codominance inheritance rule, what are possible genotypes and phenotypes? Genotypes Phenotypes BB BG GG Blue Blue and Green Green Two Traits ► Principle of Independent Assortment: Genes for different traits segregate independently during gamete formation IF the genes are located on different chromosomes Mendel formulated this principle, but the IF… was not added until later ► For two traits that assort independently, we can use a 16 square Punnett Square A dihybrid cross (AaBb x AaBb) will always produce 9:3:3:1 ratio Multiple Alleles ► When there are more than 2 alleles for a given trait in a population Each individual still only carries 2 alleles for the trait ► The most common example of multiple alleles is human blood type Human Blood Type ►3 alleles used for human blood type A, B, O ►4 possible blood types in humans A, B, AB, O ► The letters refer to antigens found on the red blood cells (Type A has A antigens present.) Human Blood Type ► Both the A and B alleles are dominant, but O is recessive ► Possible genotypes and phenotypes for human blood type: Genotype AA AO AB BB BO OO Phenotype Type Type Type Type Type Type A A AB B B O Try a Punnett Square for Blood Type ► Cross a person with type BO with a person who has type AB ► What are the possible blood types of the offspring? Cross Matching ► Type O is the “universal donor” because it has no antigens. Therefore, no other blood type will reject it ► Type AB is the “universal recipient” because it has no antibodies. Therefore, it will not reject any other blood type Rh Factor ► Blood types are not just represented by ABO, we also say they are positive or negative A+, A-, etc. ► +/- refers to the presence of Rh antigens on the membrane of red blood cells. If Rh antigens are present, the blood type is + If Rh antigens are absent, the blood type is – ► Rh is dominant so +/+ and +/- will be Rh +, while only -/- will be Rh- Try a Blood Type Cross AB++ x Type OGenotypes: List the gametes: Now cross! Offspring Genotypes & Percents: Offspring Phenotypes & Percents: Sex Determination ► Thomas Hunt Morgan (1866-1945): discovered that chromosomes of males and females are slightly different Sex chromosomes: chromosomes that differ between the sexes (X and Y) Autosomes: chromosomes that aren’t sex chromosomes ► Females = XX ► Males = XY ► He worked with Drosophila, or fruit flies Fruit flies have the same sex chromosomes as humans! Sex-Linked Inheritance ► Sex-linked characteristics (sometimes called Xlinked characteristics) are traits that are linked with gender Determined by an allele carried on the X chromosome The X chromosome is much larger than the Y chromosome ► Most sex-linked traits are recessive. A male who carries a particular recessive allele on the X chromosome will have the sex-linked condition. In order for a female to express the condition, she must have two X chromosomes both with the recessive allele. Hemophilia ► An example of a sex-linked condition is hemophilia. Normal blood clotting (N) is dominant to hemophilia (n). XN represents an X chromosome with normal blood clotting Xn represents an affected X chromosome carrying hemophilia Hemophilia ► In order to express hemophilia, a male only has to have one Xn chromosome. ► A female with one Xn chromosome and one XN chromosome will be a carrier of hemophilia, but will not express the condition. ► A female must have two Xn chromosomes (XnXn) to express hemophilia. Hemophilia Genotypes XNY XnY XNXN XNXn XnXn Phenotypes Non-affected Male Affected Male Non-affected Female Carrier Female Affected Female Try a Sex-Linked Cross Cross a mother who is a carrier for hemophilia with a father who has hemophilia Genotypes: List the gametes: Now cross! Offspring Genotypes & Percents: Offspring Phenotypes & Percents: Polygenic Inheritance ► Polygenic Inheritance: pattern of inheritance in which many genes affect a single trait ► Many traits are controlled by multiple genes Hair color, height, skin color, eye color ► Continuous Variation: presence of many phenotypes from one extreme to another, due to polygenic inheritance Think of how many different heights there are! Gene Expression ► Modifier genes: influence the amount, intensity & distribution Ex. Eye color is produced by melanin, blue eyes are a lack of melanin production, hazel & green are variations in amount, intensity, & distribution ► Developmental Environment: the environment in which an organism develops may influence the expression of genes If a tree has genes to be tall, but is not given enough nutrients, it cannot express that trait Pedigree Chart ►A chart that shows a family tree, including genotypes and phenotypes of each individual ► Helps to determine genotypes and phenotypes of other family members