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Chapter 26: Quantitative Genetics Student Learning Objectives Upon completion of this chapter you should be able to: 1. 2. 3. 4. 5. Understand the concept of a quantitative trait. Use statistical tools to analyze variations within groups of individuals. Understand the concepts of polygenic inheritance and quantitative trait loci. Understand the principles of heritability. Distinguish between the genetic and environmental factors that affect quantitative traits. 6. Understand the effects of selective breeding and its relationship to heritability. 26.1 Overview of Quantitative Traits Overview This chapter examines complex traits, which are determined by several genes and are influenced by environmental factors. Because they can be described numerically, many of the complex traits are also termed quantitative traits. As shown in Table 26.1, quantitative traits can be categorized as anatomical, physiological, or behavioral. Moreover, many human diseases exhibit characteristics and inheritance patterns analogous to those of quantitative traits. Three of the leading causes of deaths worldwide—heart disease, cancer, and diabetes—are considered quantitative traits. Most of the traits we have discussed so far in the textbook fall into discrete categories. For example, pea plants might have wrinkled or smooth seeds, and fruit flies may have red or white eyes. These types of traits are called discontinuous traits. In contrast, quantitative traits show a continuum of phenotypic variation within a group of individuals. Indeed, they often show a normal distribution (Figure 26.1). Outline of Key Terms Quantitative genetics Quantitative traits Complex traits Continuous traits Meristic traits Threshold traits Discontinuous traits Frequency distributuion Normal distribution Focal Points Types of quantitative traits (Table 26.1) Normal distribution of a quantitative trait (Figure 26.1) 304 Exercises and Problems For questions 1 to 5, match the term with its appropriate definition. _____ 1. Frequency distribution _____ 2. Quantitative traits _____ 3. Biometric field _____ 4. Normal distribution curve _____ 5. Discontinuous traits a. b. c. d. e. Traits that can be placed into specific phenotypic categories. A distribution is divided into convenient, discrete units for analysis. A distribution that varies in a symmetric manner around an average value. Traits that demonstrate a continuum of phenotypic variation. The study of the variation of quantitative traits within groups of individuals. For questions 6 to 8, complete the sentences with the correct word or phrase. 6. Quantitative traits, such as height and weight, that do not fall into discrete categories are termed ________ traits 7. Quantitative traits, such as bristle number in Drosophila, that can be counted and expressed into whole numbers are called ________ traits. 8. Certain diseases, like diabetes, are inherited quantitatively due to the contribution of many genes, but the traits themselves are expressed qualitatively. These types of diseases are called ________ traits. 26.2 Statistical Methods for Evaluating Quantitative Traits Overview This section introduces some important statistical methods that are used in the study of quantitative genetics. Although most genetics students have a background in statistics, it is important that you review the descriptions of mean, variance, standard deviation, and correlation coefficient before proceeding into the next sections. In addition, be sure that you understand the variables in the formulas and can apply them as needed. Outline of Key Terms Biometric field Mean Variance Standard deviation Correlation coefficient (r) Covariance Regression analysis 305 Focal Points Mathematical explanations of mean, variance, and standard deviation (pages 656-657) The relationship between standard deviation and normal distribution (Figure 26.2) Calculation and analysis of correlation coefficient (pages 657-659) Exercises and Problems For questions 1 to 6, choose the correct term that matches the statistical statement provided. _____ 1. How two factors vary in relation to one another. _____ 2. The sum of all of the values in the group divided by the number of individuals. _____ 3. A measure of how much one variable will change in response to a second variable. _____ 4. The sum of the squared deviations from the mean divided by the degrees of freedom. _____ 5. The degree of variation between two variables in a group. _____ 6. The square root of the variance. a. b. c. d. e. f. variance standard deviation covariance correlation coefficient regression analysis mean 26.3 Polygenic Inheritance Overview Many quantitative traits can be explained by the fact that more than one gene is contributing to the phenotype. This is called polygenic inheritance and is the focus of this section of the chapter. First, notice how phenotypes based on polygenic mechanisms vary from monogenic mechanisms (Figure 26.4). The section then focuses on quantitative trait loci (QTLs), which are chromosomal regions harboring genes that affect the outcome of quantitative traits. As you proceed through this section, examine how geneticists map these quantitative trait loci. Outline of Key Terms Polygenic inheritance Quantitative trait loci (QTL) QTL mapping Focal Points Continuous variation and polygenic inheritance (Figures 26.3 and 26.4) QTL mapping via molecular markers (Figure 26.5) 306 Exercises and Problems For questions 1 to 4, complete the statements below with the correct word or phrase. 1. An association between genetically determined phenotypes and molecular markers is called _________. 2. When assessing a QTL, a ________ is often performed to produce F2 generation individuals that differ with regard to their combinations of the parental chromosomes. 3. A trait that is governed by two or more genes is called __________. 4. The pigmentation of the hulls in wheat is an example of __________. 5. You are experimenting with pigmentation in the hull of bread wheat, Triticum aestivum. You cross a plant with genotype R1r1r2r2 to one that is R1r1R2R2. What is the genotypic and phenotypic ratio in the offspring? 26.4 Heritability Overview The term heritability refers to the amount of phenotypic variation within a group of individuals that is due to genetic variation. The role of the environment in determining the phenotype of the organism has been introduced several times in the text. This fourth section of the chapter discusses how scientists analyze the genetic and environmental components contributing to the observed phenotypes of quantitative traits. As with the previous sections, familiarize yourself with the terms and formulas associated with the study of heritability. For example, note the differences between the phenomena of genotype-environment interaction and genotype-environment association (pages 665-666), and narrow-sense and broad-sense heritability (pages 666-667). Outline of Key Terms Heritability Inbreeding Monomorphic Genotype-environment interaction Genotype-environment association Broad-sense heritability Narrow-sense heritability Focal Points Formulas associated with heritability studies (pages 665-667) A schematic example of genotype-environment interaction (Figure 26.6) Heritability of human fingerprint patterns (pages 667-669) 307 Exercises and Problems Complete the paragraphs below with the correct word or phrase. The term heritability refers to the amount of (1) ________ variation that is due to (2) ________ variation. If all of the variation is due to environmental effects, the heritability would have a value of (3) ________. When the environmental effects on phenotype differ according to genotype, this phenomenon is called a (4) ________, and is denoted by the symbol (5) ________. When certain genotypes are preferentially found in particular environments, this phenomenon is called (6) ________, and is denoted by the symbol (7) ________. Variance due to genetics is denoted by the symbol VG. Geneticists usually subdivide VG into three different genetic categories: VA is the variance due to the (8) ________ effects of alleles; VD is the variance due to the effects of alleles that follow a (9) ________ pattern of inheritance; and VI is the variance due to the effects of alleles that interact in an (10) ________ manner. The heritability of a trait that takes into account different types of genetic variation is called (11) ________. The heritability of a trait due to the additive effects of alleles is called (12) ________. 26.5 Selective Breeding Overview Selective breeding, or artificial selection, refers to programs and procedures designed to modify phenotypes in commercially important plants and animals. The dramatic effect selective breeding has on quantitative traits in various organisms is shown in Figures 26.9 and 26.10. The section also examines how selective breeding in a genetically diverse population can modify a trait in a desired direction until a selection limit is reached (Refer to Figure 26.11). The section ends with a discussion of how selective breeding provides a way to estimate heritability. Outline of Key Terms Selective breeding Artificial selection Selection limit Realized heritability Focal Points Some common breeds of dogs obtained by selective breeding (Figure 26.9) Crop plants developed by selective breeding of the wild mustard plant (Figure 26.10) Selective breeding for a quantitative trait (Figure 26.11) 308 Exercises and Problems Complete the sentences below with the correct word or phrase. 1. Selective breeding is also termed _________. 2. After several generations of selective breeding, a ________ may be reached; at this point selective breeding is no longer effective. 3. Using selective breeding experiments, the response to selection is a common way to estimate the ________ in a starting population. 4. The heritability measured during selective breeding experiments is referred to as ________. Chapter Quiz 1. Which of the following provides a measure of the amount of variation within the group? a. mean b. variance c. standard deviation d. regression e. correlation coefficient. 2. Which term describes the variation of a trait in a symmetric manner around an average value? a. biometric b. frequency distribution c. mean d. normal distribution 3. The square root of the variance is called the ________. a. standard deviation b. mean c. covariance d. correlation coefficient 4. This measures the strength of the association between two variables. a. mean b. variance c. standard deviation d. regression e. correlation coefficient 5. A plant with white flowers is crossed to one with red flowers. The F1 is then self-crossed. In the F2 generation, only 2/126 of the offspring had white flowers. How many genes are involved? a. 1 b. 2 c. 3 d. 4 e. 5 309 6. Mendel’s work on pea plants described which of the following? a. inbreeding b. continuous traits c. heritability d. discontinuous traits 7. The selection of traits that provide economic importance is an example of ________. a. natural selection b. inbreeding c. artificial selection d. heritability 8. All of the following are quantitative traits in humans EXCEPT a. weight. b. intelligence. c. diabetes. d. eye color. e. heart disease. 9. Which of the following term is defined as “a measure of the variation in a phenotype due to genetic factors”? a. narrow-sense heritability b. broad-sense heritability c. realized heritabilty d. variance e. biometry 10. A trait that is the same in 99% of the members of a species is said to be ________. a. quantitative b. discontinuous c. polymorphic d. monomorphic Answer Key for Study Guide Questions This answer key provides the answers to the exercises and chapter quiz for this chapter. Answers in parentheses ( ) represent possible alternate answers to a problem, while answers marked with an asterisk (*) indicate that the response to the question may vary. 26.1 1. b 2. d 3. e 4. c 5. a 6. quantitative 7. meristic 8. threshold 310 26.2 1. d 2. f 3. e 4. a 5. c 6. b 26.3 1. QTL mapping 2. backcross 3. polygenic 4. polygenic inheritance 5. Genotypic ratio is: 1/4 R1R1R2r2 : 2/4 R1r1R2r2 : 1/4 r1r1R2r2 Phenotypic ratio: 1/4 medium red : 2/4 intermediate red : 1/4 light red 26.4 1. phenotypic 2. genetic 3. 0 (zero) 4. genotype-environment interaction 5. VGXE 6. genotype-environment association 7. VG↔E 8. additive 9. dominant/recessive 10. epistatic 11. broad-sense heritability 12. narrow-sense heritability 26.5 1. artificial selection 2. selection limit 3. narrow-sense heritability 4. realized heritability Quiz 1. c 2. d 3. a 4. e 5. c 6. d 7. c 8. d 9. b 10. d 309