Mutations of haplosufficient genes are recessive Homozygous wild type Heterozygote Homozygous recessive mutant +/m m/m +/+ Protein Functional Functional Nonfunctional MRNA and Chromosome Chromosome MRNA Protein Functional Nonfunctional Nonfunctional be distinguished from the heterozygote; that is, at the phenotypic level, A/A = A/a. As mentioned earlier, phenylketonuria (PKU) and many other single-gene human diseases are fully recessive, whereas their wild-type alleles are dominant. Other single-gene diseases such as achondroplasia are fully dominant, whereas, in those cases, the wild-type allele is recessive. How can these dominance relations FIGURE 6-1 In the heterozygote, even though the mutated copy of the gene pro- duces nonfunctional protein, the wild-type copy generates enough functional protein to produce the wild-type phenotype. E E
Mutations of haplosufficient genes are recessive Homozygous wild type Heterozygote Homozygous recessive mutant +/m m/m +/+ Protein Functional Functional Nonfunctional MRNA and Chromosome Chromosome MRNA Protein Functional Nonfunctional Nonfunctional be distinguished from the heterozygote; that is, at the phenotypic level, A/A = A/a. As mentioned earlier, phenylketonuria (PKU) and many other single-gene human diseases are fully recessive, whereas their wild-type alleles are dominant. Other single-gene diseases such as achondroplasia are fully dominant, whereas, in those cases, the wild-type allele is recessive. How can these dominance relations FIGURE 6-1 In the heterozygote, even though the mutated copy of the gene pro- duces nonfunctional protein, the wild-type copy generates enough functional protein to produce the wild-type phenotype. E E
Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN:9781305251052
Author:Michael Cummings
Publisher:Michael Cummings
Chapter10: From Proteins To Phenotypes
Section: Chapter Questions
Problem 2CS: A couple was referred for genetic counseling because they wanted to know the chances of having a...
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Question
In Figure 6-1,
a. what do the yellow stars represent?
b. explain in your own words why the heterozygote is
functionally wild type
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