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Benjamin A. Pierce GENETICS A Conceptual Approach FIFTH EDITION CHAPTER 24 Quantitative Genetics © 2014 W. H. Freeman and Company 24.1 Quantitative Characteristics Vary Continuously and Many Are Influenced by Alleles at Multiple Loci • Discontinuous (Qualitative) traits possess only a few phenotypes • Continuous (Quantitative) characteristics vary along a scale of measurement with many overlapping phenotypes • The Relationship Between Genotype and Phenotype • Types of Quantitative Characteristics • Polygenic Inheritance • Kernel Color in Wheat • Determining Gene Number for a Polygenic Characteristic 24.1 Quantitative Characteristics Vary Continuously and Many Are Influenced by Alleles at Multiple Loci The Relationship Between Genotype and Phenotype • Quantitative characteristics − Exhibit complex relationship between genotype and phenotype − May be polygenic − May have environmental influences − Phenotypic ranges may overlap − Cannot use standard methods to analyze 24.1 Quantitative Characteristics Vary Continuously and Many Are Influenced by Alleles at Multiple Loci Types of Quantitative Characteristics • Meristic characteristics − Determined by multiple genetic and environmental factors, and can be measured in whole numbers. − Animal litter size. • Threshold characteristics − Measured by presence or absence − Susceptibility to disease 24.1 Quantitative Characteristics Vary Continuously and Many Are Influenced by Alleles at Multiple Loci Polygenic Inheritance • Refers to quantitative characteristics controlled by cumulative effects of many genes. • Each character still follows Mendel’s rules. • May be influenced by environmental factors. 24.1 Quantitative Characteristics Vary Continuously and Many Are Influenced by Alleles at Multiple Loci Kernel Color in Wheat • Illustrates multiple genes acting to produce continuous range of phenotypes • Nilsson-Ehle experiment • Intensity of red pigmentation is determined by three unlinked loci • Number of phenotypic classes in F2 increases with the number of loci affecting a character 24.1 Quantitative Characteristics Vary Continuously and Many Are Influenced by Alleles at Multiple Loci Determining Gene Number For a Polygenic Characteristic • (1/4)n = number of individuals in the F2 progeny that resemble each of the homozygous parents. • n = number of loci with a segregating pair of alleles that affects the characteristic 24.2 Statistical Methods Are Required for Analyzing Quantitative Characteristics • Distribution − Frequency distribution − Normal distribution: a symmetrical (bellshaped) curve. • Samples and populations − Population: group of interested individuals − Sample: small collection of individuals from the population Concept Check 1 A geneticist is interested in whether asthma is caused by a mutation in DS112 gene. The geneticist collects DNA from 120 people with asthma and 100 healthy people and sequenced their DNA. She finds that 35 of the people with asthma have a mutation in the DS112 gene, and none of the healthy people have a mutation in the DS112 gene. What is the population in this study? a. b. c. d. the 120 people with asthma the 100 healthy people the 35 people with a mutation in their gene all people with asthma Concept Check 1 A geneticist is interested in whether asthma is caused by a mutation in DS112 gene. The geneticist collects DNA from 120 people with asthma and 100 healthy people and sequenced their DNA. She finds that 35 of the people with asthma have a mutation in the DS112 gene, and none of the healthy people have a mutation in the DS112 gene. What is the population in this study? a. b. c. d. the 120 people with asthma the 100 healthy people the 35 people with a mutation in their gene all people with asthma 24.2 Statistical Methods Are Required for Analyzing Quantitative Characteristics • The Mean: the average • The Variation and Standard Deviation − Variance: the variability of a group of measurements − Standard deviation: the square root of the variance Concept Check 2 The measurements of a distribution with a higher will be more spread out. a. b. c. d. mean variance standard deviation both b and c Concept Check 2 The measurements of a distribution with a higher will be more spread out. a. b. c. d. mean variance standard deviation both b and c 24.2 Statistical Methods Are Required for Analyzing Quantitative Characteristics • Correlation: when two characteristics are correlated, a change in one characteristic is likely to be associated with a change in the other. • Correlation coefficient: measures the strength of their association. – Correlation doesn’t imply a cause-and-effect relation. It simply means that a change in a variable is associated with a proportional change in the other variable. 24.2 Statistical Methods Are Required for Analyzing Quantitative Characteristics • Regression: predicting the value of one variable, if the value of the other is given. − Regression coefficient: represents the slope of the regression line, indicating how much one value changes on average per increase in the value of another variable. Concept Check 3 In Lubbock, Texas, rainfall and temperature exhibit a significant correlation of -0.7. Which conclusion is correct? a. There is usually more rainfall when the temperature is high. b. There is usually more rainfall when the temperature is low. c. Rainfall is equally likely when the temperature is high or low. Concept Check 3 In Lubbock, Texas, rainfall and temperature exhibit a significant correlation of -0.7. Which conclusion is correct? a. There is usually more rainfall when the temperature is high. b. There is usually more rainfall when the temperature is low. c. Rainfall is equally likely when the temperature is high or low. Applying Statistics to the Study of a Polygenic Characteristic 24.3 Heritability Is Used to Estimate the Proportion of Variation in a Trait That Is Genetic Heritability: The proportion of the total phenotypic variation that is due to genetic difference Phenotypic Variance: Vp • Components of phenotypic variance Vp= VG + VE + VGE − genetic variance: VG − environmental variance: VE − genetic-environmental Interaction VGE • Components of genetic variance: VG = VA + VD + VI − additive genetic variance: VA − dominance genetic variance: VD − genic interaction variance: VI Summary: Vp = VA + VD + VI + VE + VGE 24.3 Heritability Is Used to Estimate the Proportion of Variation in a Trait That Is Genetic Types of Heritability • Broad-Sense Heritability (H2 = VG/VP) • Narrow-Sense Heritability (h2 = VA/VP) Calculating Heritability • Heritability by elimination of variance components – (VP – VE = VG) • Heritability by parent-offspring regression – (h2= b or h2= 2b) • Heritability and degrees of relatedness - H2 = 2(rMZ - rPZ) Concept Check 4 If the environmental variance (VE) increases and all other variance components remain the same, what will the effect be? a. b. c. d. Broad-sense heritability will decrease. Broad-sense heritability will increase. Narrow-sense heritability will increase. Broad-sense heritability will increase, and narrowsense heritability will increase. Concept Check 4 If the environmental variance (VE) increases and all other variance components remain the same, what will the effect be? a. b. c. d. Broad-sense heritability will decrease. Broad-sense heritability will increase. Narrow-sense heritability will increase. Broad-sense heritability will increase, and narrowsense heritability will increase. 24.3 Heritability Is Used to Estimate the Proportion of Variation in a Trait That Is Genetic The Limitations of Heritability • Heritability does not indicate the degree to which a characteristic is genetically determined. • An individual does not have heritability. • There is no universal heritability for a characteristic • Even when heritability is high, environmental factors may influence a characteristic. • Heritability indicates nothing about the nature of population differences in a characteristic. 24.3 Heritability Is Used to Estimate the Proportion of Variation in a Trait That Is Genetic Locating Genes That Affect Quantitative Characteristics • Mapping QTLs • Genomewide association studies 24.4 Genetically Variable Traits Change in Response to Selection • Natural selection arises through the differential reproduction of individuals with different genotypes. • Artificial selection: selection by promoting the reproduction of organisms with traits perceived as desirable. 24.4 Genetically Variable Traits Change in Response to Selection • Predicting the Response to Selection − The extent to which a characteristic subject to selection changes in one generation • Factors influencing response to selection − Selection differential • Calculation of response to selection − R=h2 x S • Estimating heritability from response to selection − H2=R/S; realized heritability 24.4 Genetically Variable Traits Change in Response to Selection • Limits to Selection Response − Response may level off after many generations • Correlated Responses – Phenotypic correlation – Genetic correlation