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Genetics Basics Introduction to Mendelian Genetics In the 1800, Gregor Mendel studied garden peas in an Australian monastery. He knew the male part produced the sperm and the female part produced the egg. During sexual reproduction, sperm and egg unite in a process called fertilization. Fertilization produces a new cell. Mendel was observing inheritance of traits. Gregor Mendel is called the father of Genetics. Seven Traits Mendel Studied Seed texture – round, wrinkled Seed color –yellow, green Seed coat color – gray, white Pod Appearance – inflated (smooth), constricted Pod Color – green, yellow Position of flowers along stem – axial (side), terminal (tip) Stem length – tall, short Pollination The transfer of pollen (male plant sperm) is known as pollination. The transfer of pollen within a single plant is known as self-pollination. Garden peas self-pollinate which made studying them easier. The transfer of pollen from one plant to another or fertilization that occurs between two individual plants is known as cross-pollination. Mendel would cross-pollinate by pinching the pollen from one plant and placing into female part of a different type of plant. Key Genetic Terminology An organism that has the same genes for a particular trait is known as a pure bred. An organism that has different genes for a particular trait is known as a hybrid. P generation refers to the parental generation. F1 generation represents the first offspring or first filial. F2 Generation stands for the second set of offspring or the second filial. Key Genetic Terminology Factors that control traits (occur in pairs) are called genes. A genes that masks or hides the other factor of a trait is known as dominant. A gene is masked if a stronger factor is present is known as recessive. Dominant will always overpower recessive traits. Different forms of a gene are called alleles (usually represented by letters). Alleles The genetic make-up of an organism is known as its genotype. Example: GG, Gg, gg The physical appearance of an organism is known as the phenotype. Example: green or yellow. When both alleles are the same, they are homozygous. Example: GG, gg When the alleles are different, they are heterozygous. Example: Gg A cross between individuals that involve one pair of contrasting traits is known as a monohybrid cross. A diagram used to aid in predicting possibilities is known as Punnett Square Mendel’s Laws Law of Dominance: A dominant gene will express itself over a recessive gene, and the recessive trait will only be expressed if the individual has two recessive alleles Law of Segregation: 2 factors (alleles) for a trait segregate or separate during the formation of eggs and sperm. They do not mix to form a new trait. Law of Independent Assortment: traits are inherited independently of other traits (unless they genes are found on the same chromosome, then they may be inherited together). Types of Dominance Complete Dominance : one gene is dominant, one is recessive, and the dominant gene will always be seen Incomplete Dominance: Neither gene is dominant so you will see a blending of the trait Codominance: Both alleles are dominant and both will be seen at the same time (co-existing). Multiple Alleles: Genes have 2 or more alleles follow alphabetical, capital letter, then lower case rule Sex Linked: trait is carried on the X chromosome Complete Dominance Example 1 What are the expected percentages of the offspring resulting from the cross of a hybrid plant with green pods (Gg) and a pure bred plant with yellow pods (gg)? 1. Write the cross using words, then letters 2. Calculate percentages using a Punnett Square. 3. Write a paragraph to describe the genotypes and phenotypes of all offspring using terminology such as homozygous, purebred, heterozygous, hybrid, dominant, and recessive. Example 1 Complete Dominance 1. Hybrid green x purebred yellow Gg x gg 2. G g g Gg gg g Gg gg 3. There are two genotypes for the cross. 50% are Gg which are heterozygous dominant. The homozygous recessive alleles, gg, are also 50%. Phenotypes seen in the offspring are 50% green and 50% yellow pods. Example 2 of Complete Dominance In guinea pigs, rough coat (R) is dominant to smooth coat (r), what are the expected percentages of the offspring when a heterozygous rough coat guinea pig is crossed with a smooth coat guinea pig? Example 2 of Complete Dominance 1. Heterozygous rough x smooth Rr x rr 2. R r r Rr rr r Rr rr 3. There are two genotypes for the cross. 50% are Rr which are hybrid dominant. The purebred recessive alleles, rr, are also 50%. Phenotypes seen in the offspring are 50% rough coat guinea pigs and 50% smooth coat guinea pigs. Incomplete Dominance Example 3 (Blending in plant fruit color) Genotype RR R’R’ RR’ Phenotype Red Yellow Orange What are the expected percentages of the offspring resulting from parent plants that are orange and yellow? *Important difference: the letters in incomplete dominance are the same and only the prime sign signifies different traits. * Incomplete Dominance Example 3 1. 2. Red x white RR x R’R’ R R R’ RR’ RR’ R’ RR’ RR’ 3. There is only one genotype for the cross. 100% are RR’ which are heterozygous. The only phenotype seen in this cross will be pink. Incomplete Dominance Example 4 (Blending in Snapdragons) Genotype RR R’R’ RR’ Phenotype Red White Pink What are the expected percentages of the offspring resulting from red and white snapdragon parents? Incomplete Dominance Example 4 1. 2. Red x white RR x R’R’ R R R’ RR’ RR’ R’ RR’ RR’ 3. There is only one genotype for the cross. 100% are RR’ which are heterozygous. The only phenotype seen in this cross will be pink. Codominance Example 5 The phenotypes and genotypes for feather color in a certain chicken species are shown in the chart below. Genotype Phenotype WW White feathers BW Speckled feathers BB Black feathers What are the possible outcomes of the offspring produced when a rooster with black feathers is crossed with a hen of speckled feathers? * Important difference: the letters are both capitalized and different letters Codominance Example 5 1. 2. Black x speckled BB x BW B B B BB BB W BW BW 3. There are two genotypes for the cross. 50% are BB which are purebred. The remaining 50% are heterozygous, BW. The phenotype seen in this cross will be 50% black feathers and 50% speckled feathers. Codominance Example 6 The genotypes and phenotypes for cows are listed below. Genotype Phenotype RR Red WW White RW Roan What are the possible outcomes of the offspring produced when a roan cow is crossed with a roan bull? Codominance Example 6 1. 2. Roan x roan RW x RW R W R RR RW W RW WW 3. There are three genotypes for the cross. 25% are RR which are homozygous. 25% are WW which are also homozygous. The remaining 50% are heterozygous, RW. The three phenotypes are seen in this cross. 25% are red, 50% are roan, and 25% are white. Sex-Linked XX = alleles for female, XY = alleles for male Because the X chromosome has more genes on it, most sex linked genes are X-linked. There is no dominant or recessive on the Y chromosome A recessive (lower case) sex-linked disorder carried on the X chromosomes Possible male genotypes for colorblindness: XBY, XbY Possible female genotypes for colorblindness: XBXB, XBXb, XbXb Males are more likely to inherit color blindness because he only receives on X chromosome. If he inherits the gene from his mother, he has colorblindness. Heterozygous females are carriers. Sex-Linked Colorblindness Example 7 A colorblind man marries a carrier female with normal vision. What are the possible outcomes of their children? Sex-Linked Example 7 1. Normal male x carrier female X b Y x X B Xb 2. XB Xb XBXb Y XBY Xb XbXb Xb Y 3. There are four genotypes for the cross all with 25% probability. XBXb will be a carrier. XbXb is the only homozygous allele combination. Phenotypes vary. Of the two daughters, 50%, XBXb , will have normal vision and be carriers. The other 50% will be XbXb which are colorblind daughter. Of the sons, XBY will have normal vision and Xb Y will be colorblind. Sex-Linked Colorblindness Example 8 A man with normal vision marries a colorblind woman. What are the possible outcomes of their children? Sex-Linked Example 8 1. Normal male x colorblind female X B Y x Xb Xb 2. XB Y Xb XBXb XbY Xb XBXb Xb Y 3. There are two genotypes for the cross and both are heterozygous. The carrier trait of XBXb will occur in 100% of the daughters. Xb Y will occur in 100% of the daughters. Phenotypes vary. 100% of the daughters will have normal vision. 100% of the sons will be colorblind. Multiple Alleles (Blood Type) Example 1 Each person has 2 alleles – one from the mother and one from the father There are 3 alleles for blood type: IA, IB, and i Follow rules alphabetical, capital, lower case IA and IB are dominant over i, which is recessive IA and IB are codominant to each other 1. type A = IAIA or IAi 2. type B = IBIB or IBi 3. type AB = IAIB 4. type O = ii Blood Type Example 9 A heterozygous type A man has children with a heterozygous type B woman. What are the results of their offspring? Blood Type Example 9 1. Heterozygous type A x heterozygous type B IA i x IB i 2. IB IA IAIB i IB i i IA i ii 3. There are four genotypes for the cross. 75 % are heterozygous. There are four phenotypes. 25% is homozygous. 25% will have type AB. 25% will have type A. 25% will have type B. 25% will have type O. Blood Type Example 10 A man with type O blood has children with a woman with type AB blood. What are the results of their offspring? Blood Type Example 10 1. Type O x Type AB ii x I A IB 2. i i IA IA i IA i IB IB i IB i 3. There are two genotypes for the cross and both are heterozygous. 50% are IA i. 50% are IB i. There are two phenotypes 50% will have type A. 50% will have type B.