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Mendelian Genetics Chapter 11 Part 1 pp. 189-197, 202-204 Genetic Theories 1. Blending Theory traits were like paints and mixed evenly from both parents. 2. Incubation Theory only one parent controlled the traits of the children. Ex: Spermists and Ovists 3. Particulate Model parents pass on traits as discrete units that retain their identities in the offspring. INTRODUCTION TO GENETICS 2 Fruit and Flower of the Garden Pea Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Flower Structure stamen anther filament stigma style a. ovules in ovary carpel 5 • Mendel crossed pea plants that differed in certain characteristics and traced the traits from generation to generation • This illustration shows his technique for cross-fertilization that results in hybrid offspring Figure 9.2C Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings White 1 Removed stamens from purple flower Stamens Carpel PARENTS (P) 2 Transferred pollen Purple from stamens of white flower to carpel of purple flower 3 Pollinated carpel matured into pod 4 Planted seeds from pod OFFSPRING (F1) Self-pollination • One flower as both parents. • Natural event in peas. • Results in pure-bred offspring where the offspring are identical to the parents. Results - Summary • In all crosses, the F1 generation showed only one of the traits regardless of which was male or female. • The other trait reappeared in the F2 at ~25% (3:1 ratio). Mendel’s 4 Conclusions: 1. Various forms of genes exist 6 Mendel’s 4 Conclusions: 2. For each characteristic, we inherit 2 alleles (one from each parent) 3. If alleles are different, in complete dominance, there is a dominant and recessive allele GENE LOCI P GENOTYPE: Figure 9.4 a B P a b PP aa Bb HOMOZYGOUS for the dominant allele Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings HOMOZYGOUS for the recessive allele DOMINANT allele RECESSIVE allele HETEROZYGOUS Mendel’s 4 Conclusions: GENETIC MAKEUP (ALLELES) P PLANTS 4. Law of Segregation: alleles separate during meiosis and rejoin during fertilization of sperm and egg. Remember Anaphase I (separation of tetrads) Gametes PP pp All P All p F1 PLANTS (hybrids) Gametes All Pp 1/ 2 Eggs F2 PLANTS Phenotypic ratio 3 purple : 1 white Genotypic ratio 1 PP : 2 Pp : 1 pp Figure 9.3B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 1/ P P P PP p Pp p Sperm p Pp pp 2 MENDEL’S LAW OF SEGREGATION During the formation of gametes (eggs or sperm), the two alleles responsible for a trait separate from each other. Alleles for a trait are then "recombined" at fertilization, producing the genotype for the traits of the offspring. Rr R r We can show Mendel’s idea in the form of punnet squares: 1.What is the probability that a couple will have a boy? 10 Modern Genetics View • Each trait in a pea plant is controlled by two alleles (alternate forms of a gene) • Dominant allele (capital letter) masks the expression of the recessive allele (lower-case) • Alleles occur on a homologous pair of chromosomes at a particular gene locus – Homozygous = identical alleles – Heterozygous = different alleles 15 Genotype versus Phenotype • Genotype – Refers to the two alleles an individual has for a specific trait – If identical, genotype is homozygous – If different, genotype is heterozygous • Phenotype – Refers to the physical appearance of the individual 16 Patterns of Inheritance • Complete dominance (Mendel’s focus) • Incomplete dominance • Codominance • Multiple Alleles • Pleiotropy • Epistasis • Polygenic Traits 11 Fig. 14-UN2 Degree of dominance Example Description Complete dominance of one allele Heterozygous phenotype same as that of homozygous dominant Incomplete dominance of either allele Heterozygous phenotype intermediate between the two homozygous phenotypes PP Pp C RC R Codominance Multiple alleles Pleiotropy Heterozygotes: Both phenotypes expressed In the whole population, some genes have more than two alleles One gene is able to affect multiple phenotypic characters CRCW CWCW IAIB ABO blood group alleles IA , IB , i Sickle-cell disease Examples of COMPLETE DOMINANCE 1. Class Example: Brown eyes are dominant over blue.What is the probability that Mr. and Mrs. Brooks will have a child with brown eyes if both are hybrids? 2. Class Example:The ability to roll the tongue is dominant to the lack of this ability. Mr. Brooks is recessive and Mrs. Brooks is heterozygous. 3. Class Example: Right handedness is dominant to left. Tommy is right-handed but not a hybrid and his brother is left handed. What is the phenotypic ratio? If Tommy has a child in the future, what handedness will this child be? What was the probability that Tommy would have the genotype he has? What was the probability that Tommy would have the phenotype he has? 10 Punnett Square Showing Earlobe Inheritance Patterns Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Parents Ee Ee eggs E e EE Ee Ee e e Punnett square spem E e Offspring Allele key E = unattached earlobes e = attached earlobes Phenotypic Ratio 3 unattached earlobes 1 attached earlobes 20 Mendel’s Law of Probability Multiplication • Allows us to easily calculate probability, of genotypes and phenotypes among the offspring • Punnett square in next slide shows a 50% (or ½) chance – The chance of E = ½ – The chance of e = ½ • An offspring will inherit: – – – – The chance of EE =½x½=¼ The chance of Ee =½x½=¼ The chance of eE =½x½=¼ The chance of ee =½x½=¼ Mendel’s Law of Probability: Addition • Rule of Addition is that the probability of an event that can occur in two or more independent ways is the sum of the separate probabilities of the different ways….applies to heterozygous being produced (Ee) • An offspring will inherit: – The chance of EE =½x½=¼ – The chance of Ee =½x½=¼ – The chance of eE =½x½=¼ – The chance of ee =½x½=¼ The probability that a heterozygous offspring will be produced is 1/4 + 1/4 = 1/2. 14 EXAMPLES Monohybrid using Rules of multiplication and addition AA x Aa……Probability of Aa offspring? Aa x Aa…..Probability of Aa offspring? 15 What if you don’t know each parent’s genotype? TEST CROSS – designed to reveal the genotype of an organism when you do not know Example using a TEST CROSS • The ability to roll the tongue is dominant to the lack of this ability. Mr. Smith is a tongue roller while Mrs. Smith is not. What are the possible probabilities of the next generation? 17 15 Mendel’s Law: The LAW of INDEPENDENT ASSORTMENT is revealed by tracking 2 traits • By looking at two characteristics at once, Mendel found that the alleles of a pair segregate independently of other allele pairs during gamete formation – This is known as the law of independent assortment Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings DIHYBRIDS Analysis of two traits simultaneously • Trait: Handedness (right vs. left) and Eye Color (brown vs. blue) • Use ‘H’ for handedness and ‘E’ is for eye color. Right handedness is dominant to left and brown eyes are dominant to blue. Mom is heterozygous for both traits and dad is a hybrid for both traits. – WHAT IS THE PHENOTYPIC RATIO? Rules of Probability Applies to Dihybrid Crosses too • For a dihybrid cross, HhEe x HhEe, what is the probability of an F2 having the genotype »HHEE? »HhEe? »hhee? Let’s Try a Trihybrid • Determine the probability that the offspring would produce recessive phenotypes for at least 2 of the 3 characters. – Heterozygous purple flowers and yellow seeds and round seeds crossed with heterozygous purple and recessive green and wrinkled. 21 Fig. 14-UN1 Incomplete Dominance Class Example: A cross between a red four o clock and a white four o clock produces a pink one. Cross a red four o clock with a pink four o clock. Codominance • Two alleles affect the phenotype in separate and distinguishable ways. • Neither allele can mask the other and both are expressed in the offspring and not in an “intermediate” form. • In a study conducted by the University of Michigan, pitch black feathered birds crossed with gray feathered birds produced a spotted (black and gray), bird. Show a cross between 2 speckled birds. • 1) In cattle, roan coat color (mixed red and white hairs) occurs in the heterozygous (RW) offspring of red (RR) and white (WW) homozygotes. When two roan cattle are crossed, the phenotypes of the progeny are found to be in the ratio of 1 red:2 roan:1 white. Which of the following crosses could produce the highest percentage of roan cattle? • A) roan x roan • B) red x white • C) white x roan • D) red x roan • E) All of the above crosses would give the same percentage of roan. Multiple Alleles ABO Blood System Multiple Allelic Traits 35 Rh Factor associated with Blood Types demonstrates Complete Dominance 29 Pleiotropy • Most genes have multiple phenotypic effects. The ability of a gene to affect an organism in many ways is called pleiotropy. Epistasis • Epistasis occurs when a gene at one locus alters or influences the expression of a gene at a second loci. In this example, C is for color and the dominate allele must be present for pigment (color) to be expressed. In a certain breed of plants, B produces blue flowers and is dominant over b which produces green flowers. Another gene determines in which cells the pigment will be synthesized. Allele M allows complete synthesis of the pigment throughout the flowers but the mutant allele m prevents pigment production. You cross two plants that are BbMm. • Polygenetic Inheritance • Qualitative variation usually indicates polygenic inheritance. This occurs when there is an additive effect from two or more genes. Pigmentation in humans is controlled by at least three (3) separately inherited genes. 18 40 Fig. 14-UN2 Degree of dominance Example Description Complete dominance of one allele Heterozygous phenotype same as that of homozygous dominant Incomplete dominance of either allele Heterozygous phenotype intermediate between the two homozygous phenotypes PP Pp C RC R Codominance Multiple alleles Pleiotropy Heterozygotes: Both phenotypes expressed In the whole population, some genes have more than two alleles One gene is able to affect multiple phenotypic characters CRCW CWCW IAIB ABO blood group alleles IA , IB , i Sickle-cell disease Fig. 14-UN3 Relationship among genes Epistasis Example Description One gene affects the expression of another BbCc BbCc BC bC Bc bc BC bC Bc bc 9 Polygenic inheritance A single phenotypic character is affected by two or more genes AaBbCc :3 :4 AaBbCc