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CHAPTER 10
Mendelian Genetics
Chapter 10 slide 1
Introduction
1. Gregor Mendel (18221884) laid the foundation for our current understanding of heredity. 2. Mendel did not know about chromosomes or genes, which were discovered after his lifetime.
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Fig. 10.1 Influences on the physical manifestation (phenotype) of the genetic blueprint (genotype)
Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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2. 3.
4. 5.
b. Seed color: *yellow vs. green. c. Seed shape: *green vs. yellow.
d. Pod color: *green vs. yellow. e. f. Pod shape: *inflated vs. pinched. Stem height: *tall vs. short.
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Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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Fig. 10.4 Seven character pairs in the garden pea that Mendel studied in his breeding experiments
Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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2. A monohybrid cross involves true-breeding strains that differ in a single trait. 3. To determine whether both parents contribute equally to the phenotype of a particular trait in offspring, a set of reciprocal crosses is performed. By convention, the female parent is given first. 4. In Mendelian genetics, offspring of a monohybrid cross will exactly resemble only one of the parents. This is the principle of uniformity in F1. 5. Traits that disappear in the F1 reappear in the F2. The F2 generation will have a ratio of about one individual with the reappearing phenotype to three individuals with the phenotype that was present in the F1. Mendel reasoned that information to create the trait was present in the F1 in the form of particulate factors, which we now call genes (Figure 10.6).
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Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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6. Each particulate factor exists in alternative forms (now called alleles) that control a specific trait. True-breeding strains contain identical factors. The F1 contain one of each, but since the trait is just like one of the parents rather than a mix, one (dominant) allele has masked expression of the other (recessive) one. 7. By convention, letters may be used to designate alleles, with the dominant a capital letter (S), and the recessive in lower case (s). 8. Individuals with identical alleles (e.g., genotypes SS and ss) are called homozygous for that gene, because all their gametes will have the same allele for this trait. Individuals with different alleles (e.g., Ss) are heterozygous, because 12 of their gametes will contain one allele, and 12 the other (Figure 10.7).
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Fig. 10.7 Dominant and recessive alleles of a gene for seed shape in peas
Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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9. Diagrams of a smooth x wrinkled cross appear in Figure 10.8. The Punnett square is a diagram showing all possible combinations of the gametes produced by each parent. Note that it accounts for the 3:1 ratio in the F2 generation. 10. When Mendel had conducted experiments for the seven different traits in garden peas, he made these conclusions:
a. Results of reciprocal crosses are always the same. b. The F1 resembled only one of the parents.
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Fig. 10.8a Mendels first law, principle of segregation of Mendelian factors: Production of the F1 generation
Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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Fig. 10.8b Mendels first law, principle of segregation of Mendelian factors: Production of the F2 generation
Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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1. The first Mendelian law, the principle of segregation, states: Recessive characters, which are masked in the F1 from a cross between two true-breeding strains, reappear in a specific proportion in the F2. This is because alleles segregate during anaphase I of meiosis, and progeny are then produced by random combination of the gametes.
2. A summary of terms and concepts appears in Box 10.1
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Fig. 10.9 Using the branch diagram approach to calculate the ratios of phenotypes in the F2 generation of the cross in Figure 10.8
Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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Fig. 10.10 Determining the genotypes of the F2 smooth progeny of Figure 10.8 by selfing the plants grown from the smooth seeds
Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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Chapter 10 slide 20
Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.
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Chapter 10 slide 21
Dihybrid Crosses and Mendels Principle of Independent Assortment The Principle of Independent Assortment
Animation: Mendel's Principle of Independent Assortment 1. After Mendel analyzed crosses involving two pairs of traits (dihybrid crosses), he formulated his second law, the principle of independent assortment, which says that the factors for different traits assort independently of one another. This allows for new combinations of the traits in the offspring. 2. A dihybrid cross will produce four possible phenotypic classes, in a 9:3:3:1 ratio.
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4. In the F2 of a dihybrid cross there will be four phenotypic classes, and nine genotypic classes (Table 10.2)
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Fig. 10.12b Derivation of F2 genotypes and 9:3:3:1 phenotypic ratio by use of the Punnett square
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Fig. 10.13 Using the branch diagram approach to calculate the F2 phenotypic ratio of the cross in Figure 10.12
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Trihybrid Crosses
1. Crosses involving three independently assorting character pairs are called trihybrid. There are 64 possible combinations of the eight different gamete types contributed by each parent, creating 27 different genotypes. There will be eight different phenotypes, in a predicted ratio of 27:9:9:9:3:3:3:1. 2. Some useful generalizations about Mendelian genetics, with the following assumptions: (1) The parents are two different true-breeding strains for the gene(s) under study; (2) The F1 self-fertilize or interbreed. Under these assumptions:
a. The F1 will be heterozygous for each gene involved in the cross. b. When the F1 interbreed, the F2 will contain 34 dominant phenotype and 14 recessive phenotype individuals, with genotype frequencies of 14 for AA, 12 for Aa, and 14 for aa. c. There are two phenotypic classes in the F2 of a monohybrid cross, four in a dihybrid cross and eight in a trihybrid cross. General rule is that there are 2n phenotypic classes in the F2, where n is the number of independently assorting heterozygous gene pairs. d. There are three genotypic classes in the F2 of a monohybrid cross, while there are nine in a dihybrid cross and 27 in a trihybrid cross. General rule is that there are 3n phenotypic classes in the F2, where n is the number of independently assorting heterozygous gene pairs. e. The phenotypic rule (2n) is also used to predict the number of genotypic classes produced in the test cross of a multiply heterozygous F1 , because the number of 10 slide 28 601 20000 Chapter genotypic classes will match the number of phenotypic ones.
Fig. 10.14 Branch diagram derivation of the relative frequencies of the eight phenotypic classes in the F2 of a trihybrid cross
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3. See Tables 10.2 and 10.4 for an example using the chi-square test to analyze a hypothesis.
4. Chi-square analysis cannot tell us that a hypothesis is correct or incorrect, only whether the observed result is a good fit with predictions of the hypothesis.
a. If differences between the results and the prediction are unlikely to be due to chance alone, the hypothesis will be rejected and another one tried. b. Typically if the probability of obtaining the observed 2 values is greater than 5% (P> 0.05) the hypothesis is not rejected. 601 20000 Chapter 10 slide 32
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Pedigree Analysis
1. The study of the phenotypic records of a family over several generations is pedigree analysis. The individual upon whom the study focuses is the propositus (male) or proposita (female).
2. The symbols of pedigree analysis are summarized in Figure 10.16, and Figure 10.17 shows a sample pedigree. Note that generations are numbered with Roman numerals while individuals are numbered with Arabic numerals.
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2. Deleterious recessive alleles persist in the population because heterozygous individuals carry the allele without developing the phenotype, and so are not at a selective disadvantage.
3. Characteristics of recessive inheritance of a relatively rare trait:
a. Parents of most affected individuals have normal phenotypes but are heterozygous. If the allele is rare the trait will skip generations. b. Mating of heterozygotes will produce 34 normal progeny and 14 with the recessive phenotype. c. If both parents have the recessive trait, all their progeny will usually also have the trait.
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Fig. 10.18 Albinism (a) Two individuals with albinism: blue musicians Johnny (left) and Edgar Winter (right) (b) A pedigree showing the transmission of the autosomal recessive trait of albinism
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4. Dominant traits are also well documented in humans. A mutation may produce a dominant phenotype by causing a function to be gained due to an altered gene product capable of a new activity. Examples:
a. Woolly hair (Figure 10.19). b. Achondroplasia. c. Brachydactyly. d. Marfan syndrome.
5. Dominant alleles produce a distinct phenotype when in a heterozygote whose other allele is wild-type. Due to the rarity of dominant mutant alleles causing recognizable traits, homozygous dominant individuals are very unusual. Most pairings are between a heterozygote and a homozygous recessive (wild-type) individual. 6. Characteristics of dominant inheritance of a relatively rare trait:
a. Affected individuals have at least one affected parent.
b. The trait is present in every generation. c. Offspring of an affected heterozygote will be 12 affected and 12 wildtype.
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Fig. 10.19 Woolly hair (a) Members of a Norwegian family, some of whom exhinbit the trait of woolly hair (b) Part of a pedigree showing the transmission of the autosomal dominant trait of woolly hair
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