Genetics

What is Genetics? The branch of biology that seeks to explain biological variation Heredity: Transmission of characteristics (traits) from parent to offspring

Vocab You Should Recall: Diploid- –a cell with 2 sets of homologous chromosomes (2n) Haploid- – a cell with 1 set of chromosomes (n) without a homologous pair Gamete- –a male or female sex cell (n) Zygote- –a fertilized egg cell (2n)

More to Recall: Chromosome –a long piece of DNA containing many genes Gene – The length of DNA that codes for a trait. –Genes come in pairs that separate in the formation of gametes.

New Vocab Genotype –An organisms genetic make-up (allele combination) Phenotype - The physical appearance of a gene (visible trait)

What is the relationship between genes (genotype) and observable characteristics (phenotype)? Phenotype = Genotype + Environment. Genetically identical hydrangeas growing in soils of different acidity (different environments). The phenotype = genotype + environment principle applies equally to human traits.

Different Genotypes Can Produce the Same Phenotype

Types of Chromosomes Autosomes: Chromosomes that determine all traits except gender –How many autosomes in a human somatic cell? –How many autosomes in a human gamete? Sex Chromosomes: Chromosomes that determine gender –How many sex chromosomes in a human somatic cell?

Allele –Alternative versions of a gene (one from each parent 2 alleles = one gene) Homozygous –Having a pair of identical alleles for a characteristic (pure) Heterozygous –Having 2 different alleles for a characteristic (hybrid) For example, the gene for seed shape in pea plants exists in two forms: one form or allele for round seed shape (R) the other for wrinkled seed shape (r). A homozygous plant would contain the following alleles for seed shape: RR or rr. A heterozygous plant would contain the alleles Rr

Classroom Genetics Characteristic: capital=dominant / lower case=recessive Personal Phenotype and Genotype Number w/trait% of Class with Trait Hairline  widow's peak (H)  continuous hairline (h) Earlobes  unattached (E)  attached (e) Hitchhiker's thumb  top segment of thumb straight (T)  top segment of thumb can be bent back (t) U-shaped tongue  able to roll tongue in trough-like shape (R)  unable to roll tongue (r)

Dominant- –In heterozygote, the allele that is expressed in phenotype Recessive – In heterozygote, the allele that is completely masked in the phenotype Earlobes: Free ear lobes (dominant trait) Attached ear lobes (recessive trait) Dimples: Dimples (dominant trait) No dimples (recessive trait) Tongue-Rolling: Rolling up edges (dominant trait) not rolling (recessive)

Mendelian Genetics Gregor Mendel ( ) –Known as the “Father of Modern Genetics” –Austrian Monk (and HS science teacher) who wondered how plants obtain atypical characteristics –Wrote “Experiments with Hybrid Plants”

Mendel’s Experiments…..

Gregor Mendel’s Rules of Inheritance Rule of Dominance and Recessiveness: –The allele that expresses itself in the phenotype when a gene is heterozygous (hybrid) is the dominant allele. The allele that is masked is the recessive allele. Ex. Tongue rolling. Rule of Incomplete Dominance: –When a gene is heterozygous, incomplete dominance (or co- dominance) results when the phenotype is a mixture of the two genotypes. Ex. Red, pink and white snapdragons. Rule of Segregation: –During Meiosis, two alleles of a gene separate during the formation of gametes (egg and sperm). Rule of Independent Assortment: – Alleles of one gene separate independently of the alleles of any other gene. In other words, the way in which one pair of alleles segregates has nothing to do with the way any other pair of alleles segregate.

Monohybrid Cross – a genetic cross between individuals differing in one trait Dihybrid Cross - a cross between individuals differing in two traits

F 1 Generation –The first generation of hybrid offspring in a genetic cross F 2 Generation –Offspring resulting from interbreeding of the hybrid F1 generation.

Punnett Square: Predicts offspring genotype from parental gamates in a visual form:

Test Cross –Breeding of recessive homozygote with dominant phenotype, but unknown genotype

Nondisjunction Failure of homologous chromosomes to separate in meiosis

Web Karyotyping activity

Tongue Rolling Dolly cannot roll her tongue, so we know she is homozygous recessive for that trait. –Phenotype: non roller –Genotype: tt Dolly’s dad cannot roll his tongue either –Phenotype: non roller –Genotype: tt Dolly’s mom can roll her tongue. –Phenotype: roller –Genotype: TT or Tt In order to have a daughter who cannot roll her tongue, what does Dolly’s mom genotype have to be? tt T ? Tt -t In order for Dolly to be a non-tongue roller, her mom has to be heterozygous for tongue rolling tt t

Some general rules for genetics problems: Two alleles are necessary for a trait The genes are symbolized by the first letter of the dominant gene. The letter for the dominant gene is always capitalized. The letter for the recessive trait is always lower case (make sure you can tell the difference between the two) Wild Type is the typical form of the organism, strain, or gene Pure traits are those with identical genes (homozygous). Hybrids have mixed genes for the same trait (heterozygous). Gametes only carry one allele for each trait (they are haploid)

Probability Mathematic tool used for predicting the likelihood of events Equal to the expected frequency of a particular event when an experiment is repeated an infinite number of times Probabilities in genetics are often predicted based on a hypothesis, which is tested with real data Mendel predicted outcomes of pea plant crosses and then tested them thousands of times over 8 years!

Probability = # times event is expected to happen # opportunities (trials) usually expressed as a fraction (or %). –Ex. The chance of a coin landing heads up is one out of two or ½ (50%) The chance of drawing an ace out of a deck of cards is 4 out of 52 or 1/13 (7.7%)

Why can the principles of probability be used to predict the outcomes of genetic crosses? Segregation of alleles in meiosis & uniting of a certain egg and sperm is random, like a coin flip.

Cystic fibrosis is an autosomal recessive disorder. –To have the disease, an individual has to be homozygous recessive (ff) A man and woman are both carriers for cystic fibrosis (Ff). What are the chances of them having a child with the disorder? Ff F f FF Ff ff

First Law of Probability the results of one chance event have no effect on the results of subsequent chance events. ex. My cousin already has 3 boys. His wife is pregnant. What is the probability of his fourth child being a boy? ½ If my friend Victoria and her husband Peter are carriers of cystic fibrosis and have already had a son with the disorder, what are their chances of having another child with the disorder? ¼ or 25%

Two Other Rules of Probability you’ll need to understand Rule of Multiplication- –the probability of a compound event is equal to the PRODUCT of the separate probabilities of the independent single events –prob(a and b) = p(a)p(b) Ex. The probability of flipping a coin and getting 2 tails in a row: The probability of flipping tails on the 1 st penny= ½ x The probability of flipping tails on the 2 nd penny= ½ = The probability of getting tails on both pennies= ¼

Rule of Addition- The probability of an event that can occur in two or more alternative ways is the SUM of the separate probabilities of the different ways. Ex. The probability of flipping 1 head and 1 tail in a toss with 2 coins: The probability of flipping tails on the 1st penny and heads on the 2nd penny = (½)(½) = ¼ + The probability of flipping heads on the 1st penny and tails on the 2nd penny= (½)(½) = ¼ = The probability of getting one tail and one head in a toss with 2 coins = ½

Practice Problems What is the probability of any couple having 4 boys in a row? ½ x ½ x ½ x ½ = 1/16 or 6.25% What is the probability of my friend Victoria and her husband having two kids with cystic fibrosis? ¼ x ¼ = 1/16

Is the following sentence true or false? False The past outcomes of coin flips greatly affect the outcomes of future coin flips.

How can you be sure of getting the expected 50 : 50 ratio from flipping a coin? You must flip the coin many times. Therefore, the _____ the number of offspring from a genetic cross, the closer the resulting numbers will get to expected values. GREATER

How to determine the expected outcome of a coin toss a = heads. On a coin, there is a ½ probability of tossing heads b = tails. On a coin, there is a ½ probability of tossing tails When tossing coins simultaneously, use binomial expansion to determine all the possible outcomes/frequencies.

Chi Square (X 2 ) How well do the observed results fit with the expected? X 2 indicates the degree of deviation, tells you the % of cases in which such a deviation might be expected by chance. The higher the X 2 Probability (P value from table), the more likely that the results are “true.” The lower the X 2 P, the more likely there’s something askew (coin weighted differently on each side, sticky side, etc)

Degrees of Freedom # of possibilities – 1 For a coin, you can toss heads or tails 2 possibilities Degrees of freedom would be 2-1= 1 For a die, the degrees of freedom would be 6 – 1= 5

Dihybrid Crosses In this type of cross, each trait is considered separately (just as in a monohybrid cross) How many traits are involved in a dihybrid cross? 2 How many pairs of genes are involved? 2 How many total genes are involved? 4 How many genes for each trait are found in gametes? 1 How many total genes are involved in each gamete? 2

Practice #1 A tall green plant is crossed with a short yellow plant. All of the offspring are tall and green. –Genotypes of the parents: –Genotypes of the gametes:

Practice #2 A green wrinkled pea plant is crossed with a yellow round pea plant. All of the offspring have green round peas. Show how genes will arrange to do this: –Genotypes of the parents: –Genotypes of the gametes: Genotype and phenotype of offspring: genotype Phenotype

Practice #3 If a plant that is hybrid for green and pure for wrinkled peas is crossed with a yellow wrinkled pea plant, predict the genotypes and phenotypes of the offspring. Genotypes of the parents: Genotypes of the gametes: Genotype and phenotype of offspring: genotype Phenotype

Rule of Independent assortment The random selection of one trait will not determine the random selection of another In other words, the genes for your eyes are transmitted independently of the genes for your height See the dihybrid example to the right: As you can see, there are 4 possible outcomes. One letter does not affect the selection of the other.

What Works for Peas Also Works for Humans Consider a cross between parents heterozygous for both deafness and albinism. This is the same 9:3:3:1 ratio seen for Mendel’s cross involving pea color and shape.

Non-Mendelian Genetics i.e. exceptions to Mendel’s Rules Covers traits that have a range of phenotypes, not just 2 possibilities

Incomplete Dominance pattern of gene expression in which the phenotype of a heterozygous individual is intermediate between those of the parents.

INCOMPLETE DOMINANCE cont’d: Yellow coat color in guinea pigs is produced by the homozygous genotype YY Cream color by the heterozygous genotype Yy White by the homozygous genotype yy. What genotypic and phenotypic ratios are matings between cream-colored individuals likely to produce? 1:2:1 yellow: cream: white

Codominance the condition in which both alleles in a heterozygous organism are expressed. Ex. Roan horses or cows

CO-DOMINANCE cont’d: In cattle, reddish coat color is not completely dominant to white coat color. Heterozygous individuals have coats that are roan colored (ie. reddish, but with spots of white hairs). What would be the results of the following crosses: a. red x roan: b. white x roan: c. red x white: d. roan x roan: Genotypephenotype 1:1 RR:Rr1:1 Red: Roan 1:1 Rr:rr1:1 Roan:White All Rrall Roan 1:2:1 RR:Rr:rr 1:2:1 Red:Roan:White

Multiple Alleles genes with three or more alleles Ex. Blood types- there is an A, B, and O allele (I A, I B, i) (More on this when we discuss blood type genetics)

Polygenic Trait- when several genes influence one trait. Ex. Eye color, height, hair, and skin color Height is a polygenic trait

Pleiotropy one gene that affects more than one seemingly unrelated phenotype Anemia, infections, weakness, impaired growth, liver and spleen failure, death. Traits (phenotypes) associated with the sickle cell allele.

Epistasis one gene masks the expression of a different gene for a different trait Ex. The gene for albinism masks the effects of genes for skin, hair, and eye color.

Epistasis cont’d In Labs, black is dominant to chocolate (B or b). Yellow is recessive epistatic (when present, it blocks the expression of the black and chocolate alleles) E or e. Determine the number of chocolate labs produced from a black female and a yellow male (BbEe x bbee) PhenotypePossible Genotypes BBEE BbEE BBEe BbEe bbEE bbEe BBee Bbee bbee

Influence of Environment phenotype depends on conditions in the environment. Ex. Arctic fox, Siamese cats, height, and skin color Temperature sensitive – The cold extremities (ears, nose, tail, and feet) express pigmentation while the warm body does not)

Height in humans is polygenic. Each upper case letter adds 3”. Males (aabbcc) are 5’ and females (aabbcc) are 4’ 7”. How tall would a male with the genotype AaBbCc be? 5’9” A female? 5’4” Probability that mating with this male & female result in a child that is homozygous recessive for all three traits? (1/4) 3 = 1/64 How tall would that child be if it were a girl? 4’7”

BbEe x bbee BEBebEbe BbEeBbeebbEebbee ColorBlackYellowBrownYellow

Pea Plants In sweet peas, purple flower color (P) is dominant over white (p), but there is also a control gene such that if the plant has a “C”, the purple has “permission” to express itself. –If the plant is “cc”, the purple does not “have permission” to express itself and the flower will be white anyway. –If a plant with homozygous purple, controlled flowers(CC) is crossed with a plant with white, non-controlled(cc) flowers, diagram the Punnett square for the F 1 and F 2 generations and calculate the phenotype ratios. First, what are the genotypes of the parents in the first generation? PPCC and ppcc What are the genotypes of their offspring? PpCc

What is always the phenotypic ratio for a dihybrid cross: genotype P-C- P-cc ppC- ppcc 9: Dominant for both traits 3: Dominant for first trait and recessive for second 3: Recessive for first trait and dominant for second 1: Recessive for both traits What are the phenotypes? P-C-purple P-ccwhite ppC-white Ppccwhite