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Questions and Answers
What distinguishes a dominant inheritance disorder from a recessive one?
What distinguishes a dominant inheritance disorder from a recessive one?
- Recessive disorders appear later in life than dominant disorders.
- Dominant disorders require two mutated alleles for expression, while recessive disorders require only one.
- Dominant disorders are always less severe than recessive disorders.
- Dominant disorders involve a mutated allele that is expressed even with a healthy allele present, while recessive disorders require two mutated alleles for expression. (correct)
Why might a person be considered a 'carrier' in the context of recessive inheritance disorders?
Why might a person be considered a 'carrier' in the context of recessive inheritance disorders?
- They possess one copy of the mutated allele and express a mild form of the disorder.
- They do not possess any mutated alleles but can still pass on the disorder to their offspring.
- They possess two copies of the mutated allele but do not express the disorder.
- They possess one copy of the mutated allele but do not express the disorder. (correct)
What does 'gain of function' mean in the context of dominant inheritance disorders?
What does 'gain of function' mean in the context of dominant inheritance disorders?
- The mutated protein loses its original function.
- The mutated protein corrects the function of other proteins.
- The mutated protein acquires a new or enhanced function. (correct)
- The mutated protein prevents the expression of other genes.
How does 'reduced penetrance' differ from complete penetrance in the context of genetic disorders?
How does 'reduced penetrance' differ from complete penetrance in the context of genetic disorders?
What is 'non-penetrance' concerning a genetic disorder?
What is 'non-penetrance' concerning a genetic disorder?
What is pleiotropy in the context of genetic disorders?
What is pleiotropy in the context of genetic disorders?
How does variable expressivity manifest in individuals with the same genetic disorder?
How does variable expressivity manifest in individuals with the same genetic disorder?
Which of the following characteristics is more typical of Recessive Inheritance Disorders (RID) compared to Dominant Inheritance Disorders (DID)?
Which of the following characteristics is more typical of Recessive Inheritance Disorders (RID) compared to Dominant Inheritance Disorders (DID)?
Which statement best describes how the mutated allele behaves in a dominant inheritance disorder?
Which statement best describes how the mutated allele behaves in a dominant inheritance disorder?
In Dominant Inheritance Disorders (DID) that involve 'gain of function,' what is the direct effect of the mutation?
In Dominant Inheritance Disorders (DID) that involve 'gain of function,' what is the direct effect of the mutation?
How does 'penetration' relate to the expression of a mutated gene?
How does 'penetration' relate to the expression of a mutated gene?
Which of the following aspects is associated with 'variable expressivity' in genetic disorders?
Which of the following aspects is associated with 'variable expressivity' in genetic disorders?
If a genetic disorder is described as pleiotropic, what does this indicate?
If a genetic disorder is described as pleiotropic, what does this indicate?
How do dominant and recessive inheritance disorders typically differ in terms of when symptoms first appear?
How do dominant and recessive inheritance disorders typically differ in terms of when symptoms first appear?
A certain genetic mutation results in a protein that is produced in excessive amounts, leading to overstimulation of a cellular pathway. Which type of inheritance disorder is most likely associated with this mutation?
A certain genetic mutation results in a protein that is produced in excessive amounts, leading to overstimulation of a cellular pathway. Which type of inheritance disorder is most likely associated with this mutation?
Flashcards
Dominant Inheritance Disorder
Dominant Inheritance Disorder
A disorder where a person has both a mutated and healthy allele, but only the mutation is expressed.
Recessive Inheritance Disorder
Recessive Inheritance Disorder
A disorder where the mutated allele is recessive, requiring two copies for the mutation to be expressed.
Dominant Inheritance Disorders (DID)
Dominant Inheritance Disorders (DID)
Requires only 1 defective allele for the mutation to be expressed and the mutated allele experiences a gain in function.
Recessive Inheritance Disorders (RID)
Recessive Inheritance Disorders (RID)
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Penetration
Penetration
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Reduced Penetration
Reduced Penetration
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Non-Penetration
Non-Penetration
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Pleiotropy (Pleiotropism)
Pleiotropy (Pleiotropism)
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Variable Expressivity
Variable Expressivity
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Study Notes
- A dominant inheritance disorder occurs when a person has both a mutated and a healthy allele of the same gene
- In a dominant inheritance disorder, the mutation is expressed and the mutated allele is the dominant allele
- A recessive inheritance disorder occurs when the mutated allele is recessive
- Two of these alleles are required in order for the mutation to be expressed in a recessive inheritance disorder
Recessive Inheritance Disorders (RID)
- Requires 2 mutant alleles to be expressed
- Appear early in life
- Usually more severe or dangerous than Dominant Inheritance Disorders (DID)
- The mutated gene loses its function
- People can be carriers of Recessive Inheritance Disorders (RID) but not experience the disorder itself
Dominant Inheritance Disorders (DID)
- Requires only 1 defective allele for the mutation to be expressed
- Appears later in life
- The mutated allele experiences a gain in function
- There are no real carriers of a Dominant Inheritance Disorder (DID); instead, people have different levels of penetration
- "Gain of function" means that the mutation causes the protein to do something new or to do its job too much
Penetration
- When a person has a mutated gene and it is also expressed
Reduced Penetration
- When a person has a mutated gene, but it is not expressed
Non-Penetration
- When a person does not have a defective gene and, thus, does not have an abnormal phenotype
Pleiotropy (Pleiotropism)
- A single defective gene causes abnormalities in multiple systems
- E.g., Marfan's syndrome and osteogenesis imperfecta
Variable Expressivity
- When different people of the same disease express the disease differently
- E.g., Different age of expression, severity of the disease, etc.
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