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Genetics by Mendel ONE GENE WITH TWO ALLELES CONTROLING TWO CONTRASTING/ ALTERNATIVE FORMS OF A SPECIFIC TRAIT IS CALLED MENDELELIAN GENETICS 1 Introduction Genetics is the study of genes. Inheritance is how traits, or characteristics, are passed on from generation to generation. Chromosomes are made up of genes, which are made up of DNA. Genetic material (genes,chromosomes, DNA) is found inside the nucleus of a cell. Gregor Mendel is considered “The Father of Genetics“ Mendel's work was not recognized until the turn of the 20th century Mendelian Genetics Dominant traits- traits that are expressed. Recessive traits- traits that are covered up. Alleles- the different forms of a characteristic. Punnett Squares- show how crosses are made. Probability- the chances/ percentages that something will occur. Genotype- the types of genes (Alleles) present. Phenotype- what it looks like. Homozygous- two of the same alleles. Heterozygous- two different alleles. Genes Alleles - two forms of a gene (dominant & recessive) Dominant – ‘stronger’ of two genes expressed in the hybrid; represented by a capital letter (R) Recessive - gene that shows up less often in a cross; represented by a lower case letter (r) 4 Gregor Mendel Austrian Monk. Experimented with “pea plants”. Used pea plants because: They were available They reproduced quickly They showed obvious differences in the traits Understood that there was something that carried traits from one generation to the next - “FACTOR”. Gregor Mendel (1822-1884) Father of genetics Responsible for the Laws governing Inheritance of Traits 6 Mendel cont…… In the mid-1800s, the rules underlying patterns of inheritance were uncovered in a series of experiments performed by an Austrian monk named Gregor Mendel. Gregor Johann Mendel Between 1856 and 1863, Mendel cultivated and tested some 28,000 pea plants He found that the plants' offspring retained traits of the parents Called the “Father of Genetics" 8 Site of Gregor Mendel’s experimental garden in the Czech Republic 9 Mendel's Plant Breeding Experiments Gregor Mendel was one of the first to apply an experimental approach to the question of inheritance. For seven years, Mendel bred pea plants and recorded inheritance patterns in the offspring. Particulate Hypothesis of Inheritance Parents pass on to their offspring separate and distinct factors (today called genes) that are responsible for inherited traits. Mendel’s Pea Plant Experiments 11 Why peas, Pisum sativum? Can be grown in a small area Produce lots of offspring Produce pure plants when allowed to selfpollinate several generations Can be artificially crosspollinated 12 Reproduction in Flowering Plants Pollen contains sperm • Produced by the stamen Ovary contains eggs • Found inside the flower Pollen carries sperm to the eggs for fertilisation Self-fertilisation can occur in the same flower Cross-fertilisation can occur between flowers 13 Mendel’s Experimental Methods Mendel hand-pollinated flowers using a paintbrush • He could snip the stamens to prevent self-pollination • Covered each flower with a cloth bag He traced traits through the several generations 14 How Mendel Began Mendel produced pure strains by allowing the plants to selfpollinate for several generations 15 Mendel was fortunate he chose the Garden Pea •Mendel probably chose to work with peas because they are available in many varieties. •The use of peas also gave Mendel strict control over which plants mated. •Fortunately, the pea traits are distinct and were clearly contrasting. To test the particulate hypothesis, Mendel crossed truebreeding plants that had two distinct and contrasting traits—for example, purple or white flowers. What is meant by “true breeding?” Mendel cross-fertilized his plants by hand. Why is it important to control which plants would serve as the parents? For each monohybrid cross, Mendel cross-fertilized true-breeding plants that were different in just one character—in this case, flower color. He then allowed the hybrids (the F1 generation) to self-fertilize. Typical breeding experiment P generation (parental generation) F1 generation (first filial generation, the word filial from the Latin word for "son") are the hybrid offspring. Allowing these F1 hybrids to self-pollinate produces: F2 generation (second filial generation). It is the analysis of this that lead to an understanding of genetic crosses. Eight Pea Plant Traits WITH THEIR CONTRASTING ALLELES Seed shape --- Round (R) or Wrinkled (r) Seed Colour ---- Yellow (Y) or Green (y) s) Pod Shape --- Smooth (S) or wrinkled ( Pod Colour --- Green (G) or Yellow (g) Seed Coat Colour ---Gray (G) or White (g) Flower position---Axial (A) or Terminal (a) Plant Height --- Tall (T) or Short (t) p Flower colour --- Purple (P) or white ( ) 20 Mendel studies seven characteristics in the garden pea : Statistics indicated a pattern. Particulate Inheritance Mendel stated that physical traits are inherited as “particles” Mendel did not know that the “particles” were actually Chromosomes & DNA 23 Genetic Terminology Trait - any characteristic that can be passed from parent to offspring Heredity - passing of traits from parent to offspring Genetics - study of heredity 24 Types of Genetic Crosses Monohybrid cross - cross involving a single trait e.g. flower colour Dihybrid cross - cross involving two traits e.g. flower colour & plant height 25 Punnett Square Used to help solve genetics problems 26 27 More Terminology Genotype - gene combination for a trait (e.g. RR, Rr, rr) Phenotype - the physical feature resulting from a genotype (e.g. red, white) 28 Genotype & Phenotype in Flowers Genotype of alleles: R = red flower r = yellow flower All genes occur in pairs, so 2 alleles affect a characteristic Possible combinations are: Genotypes RR Rr rr Phenotypes RED RED YELLOW 29 Genotypes Homozygous genotype - gene combination involving 2 dominant or 2 recessive genes (e.g. RR or rr); also called pure Heterozygous genotype - gene combination of one dominant & one recessive allele (e.g. Rr); also called hybrid 30 31 32 Mendel’s Experimental Results 33 Did the observed ratio during the experiments match the theoretical ratio? The theoretical or expected ratio of plants producing round or wrinkled seeds is 3 round :1 wrinkled Mendel’s observed ratio was 2.96:1 The discrepancy is due to statistical error The larger the sample the more nearly the results approximate to the theoretical ratio (see seed colour) 34 Generations Parental P1 Generation = the parental generation in a breeding experiment. F1 generation = the first-generation offspring in a breeding experiment. (1st filial generation) • From breeding individuals from the P1 generation F2 generation = the second-generation offspring in a breeding experiment. (2nd filial generation) • From breeding individuals from the F1 generation 35 Following the Generations Cross 2 Pure Plants TT x tt Results in all Hybrids Tt Cross 2 Hybrids get 3 Tall & 1 Short TT, Tt, tt 36 Monohybrid Crosses 37 P1 Monohybrid Cross Trait: Seed Shape Alleles: R – Round r – Wrinkled Cross: Round seeds x Wrinkled seeds RR x rr F1 r r R Rr Rr R Rr Rr Genotype: Rr Phenotype: Round Genotypic Ratio: All alike Phenotypic Ratio: All alike 38 P1 Monohybrid SUMMARY Homozygous dominant x Homozygous recessive Offspring all Heterozygous (hybrids) Offspring called F1 generation Genotypic & Phenotypic ratio is ALL ALIKE 39 F1 Monohybrid Cross Trait: Seed Shape Alleles: R – Round r – Wrinkled Cross: Heterozygous Round seeds seeds Rr x Rr F2 R r R RR Rr r Rr rr x Round Genotype: RR, Rr, rr Phenotype: Round & wrinkled G.Ratio: 1:2:1 P.Ratio: 3:1 40 F1 Monohybrid SUMMARY Heterozygous x heterozygous Offspring: 25% Homozygous dominant RR 50% Heterozygous Rr 25% Homozygous Recessive rr Offspring called F2 generation Genotypic ratio is 1:2:1 Phenotypic Ratio is 3:1 41 What Do the Peas Look Like? 42 …And Now the Test Cross Mendel then crossed a pure & a hybrid from his F2 generation This is known as an F2 or test cross There are two possible test crosses: Homozygous dominant x Hybrid Homozygous recessive x Hybrid 43 F2 Monohybrid Cross (1st) Trait: Seed Shape Alleles: R – Round r – Wrinkled Cross: Round seeds x Round seeds RR x Rr R r R RR Rr R RR Rr Genotype: RR, Rr Phenotype: Round Genotypic Ratio: 1:1 Phenotypic Ratio: All alike 44 F2 Monohybrid Cross (2nd) Trait: Seed Shape Alleles: R – Round r – Wrinkled Cross: Wrinkled seeds x Round seeds rr R r r Rr Rr r rr rr x Rr Genotype: Rr, rr Phenotype: Round & Wrinkled G. Ratio: 1:1 P.Ratio: 1:1 45 F2 Monohybrid SUMMARY Homozygous x heterozygous(hybrid) Offspring: 50% Homozygous RR or rr 50% Heterozygous Rr Phenotypic Ratio is 1:1 Called Test Cross because the offspring have SAME genotype as parents 46 Practice Your Crosses Work the P1, F1, and both F2 Crosses for each of the other Seven Pea Plant Traits 47 Genetic traits in humans can be tracked through family pedigrees The inheritance of many human traits follows Mendel’s principles and the rules of probability Figure 9.8A Family pedigrees are used to determine patterns of inheritance and individual genotypes Dd Joshua Lambert Dd Abigail Linnell D_? Abigail Lambert D_? John Eddy dd Jonathan Lambert Dd Dd dd D_? Hepzibah Daggett Dd Elizabeth Eddy Dd Dd Dd dd Female Male Deaf Figure 9.8B Hearing Genetic Practice Problems 50 Breed the P1 generation tall (TT) x dwarf (tt) pea plants t t T T 51 Solution: tall (TT) vs. dwarf (tt) pea plants t t T Tt Tt produces the F1 generation T Tt Tt All Tt = tall (heterozygous tall) 52 Breed the F1 generation tall (Tt) vs. tall (Tt) pea plants T t T t 53 Solution: tall (Tt) x tall (Tt) pea plants T t T TT Tt t Tt tt produces the F2 generation 1/4 (25%) = TT 1/2 (50%) = Tt 1/4 (25%) = tt 1:2:1 genotype 3:1 phenotype 54