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Ch. 4 - Extensions of Mendelian Genetics
Klug - Concepts of Genetics  12th Edition
Klug12th EditionConcepts of Genetics ISBN: 9780135564776Not the one you use?Change textbook
Chapter 4, Problem 35

Contrast penetrance and expressivity as the terms relate to phenotypic expression.

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Define penetrance: Penetrance refers to the proportion of individuals with a specific genotype who actually express the associated phenotype. For example, if a genetic mutation has 80% penetrance, it means 80% of individuals with the mutation will show the phenotype, while 20% will not.
Define expressivity: Expressivity describes the degree or range of variation in the phenotypic expression of a particular genotype among individuals. It explains how strongly or mildly the phenotype is expressed in those who show it.
Contrast the two terms: Penetrance is a binary concept (phenotype is either expressed or not), while expressivity is a spectrum (phenotype can vary in intensity or form).
Provide an example for penetrance: Consider a dominant mutation in a gene that causes a disease. If 100 individuals have the mutation but only 70 develop the disease, the penetrance is 70%.
Provide an example for expressivity: In a condition like Marfan syndrome, individuals with the same mutation may show varying symptoms, such as differences in the severity of skeletal abnormalities or cardiovascular issues, illustrating variable expressivity.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Penetrance

Penetrance refers to the proportion of individuals with a specific genotype that actually express the associated phenotype. It is often expressed as a percentage and indicates how consistently a genetic trait manifests in a population. For example, if a gene for a certain trait has 80% penetrance, it means that 80% of individuals with that genotype will display the trait, while 20% will not, despite having the same genetic predisposition.
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Expressivity

Expressivity describes the degree to which a genotype is expressed in an individual's phenotype. Unlike penetrance, which is a binary measure (trait expressed or not), expressivity can vary widely among individuals with the same genotype, leading to different phenotypic outcomes. For instance, a gene may cause a trait to be expressed as a mild form in some individuals and a severe form in others, illustrating the variability in expressivity.
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Genotype-Phenotype Relationship

The genotype-phenotype relationship is the connection between an organism's genetic makeup (genotype) and its observable characteristics (phenotype). This relationship is influenced by various factors, including environmental conditions and interactions with other genes. Understanding this relationship is crucial for studying traits, as it helps explain why individuals with the same genotype may exhibit different phenotypes due to variations in penetrance and expressivity.
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Related Practice
Textbook Question

Predict the F₁ and F₂ results of crossing a male fowl that is cock-feathered with a true-breeding hen-feathered female fowl. Recall that these traits are sex limited.

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Textbook Question

Two mothers give birth to sons at the same time at a busy urban hospital. The son of mother 1 is afflicted with hemophilia, a disease caused by an X-linked recessive allele. Neither parent has the disease. Mother 2 has a normal son, despite the fact that the father has hemophilia. Several years later, couple 1 sues the hospital, claiming that these two newborns were swapped in the nursery following their birth. As a genetic counselor, you are called to testify. What information can you provide the jury concerning the allegation?

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Textbook Question

Discuss the topic of phenotypic expression and the many factors that impinge on it.

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Textbook Question

Labrador retrievers may be black, brown (chocolate), or golden (yellow) in color (see chapter-opening photo). While each color may breed true, many different outcomes are seen when numerous litters are examined from a variety of matings where the parents are not necessarily true breeding. Following are just some of the many possibilities.

(a) black x brown → all black

(b) black x brown → 1/2 black, 1/2 brown

(c) black x brown → 3/4 black, 1/4 golden

(d) black x golden → all black

(e) black x golden → 4/8 golden 3/8 black 1/8 brown

(f) black x golden → 2/4 golden 1/4 black 1/4 brown

(g) brown x brown → 3/4 brown 1/4 golden

(h) black x black → 9/16 black 4/16 golden, 3/16 brown

Propose a mode of inheritance that is consistent with these data, and indicate the corresponding genotypes of the parents in each mating. Indicate as well the genotypes of dogs that breed true for each color.

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Textbook Question

A true-breeding purple-leafed plant isolated from one side of El Yunque, the rain forest in Puerto Rico, was crossed to a true-breeding white variety found on the other side. The F₁ offspring were all purple. A large number of F₁ x F₁ crosses produced the following results:

purple: 4219, white: 5781 (Total = 10,000)

Propose an explanation for the inheritance of leaf color. As a geneticist, how might you go about testing your hypothesis? Describe the genetic experiments that you would conduct.

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Textbook Question

In Dexter and Kerry cattle, animals may be polled (hornless) or horned. The Dexter animals have short legs, whereas the Kerry animals have long legs. When many offspring were obtained from matings between polled Kerrys and horned Dexters, half were found to be polled Dexters and half polled Kerrys. When these two types of F₁ cattle were mated to one another, the following F₂ data were obtained:

3/8 polled Dexters

3/8 polled Kerrys

1/8 horned Dexters

1/8 horned Kerrys

A geneticist was puzzled by these data and interviewed farmers who had bred these cattle for decades. She learned that Kerrys were true breeding. Dexters, on the other hand, were not true breeding and never produced as many offspring as Kerrys. Provide a genetic explanation for these observations.

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