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In a pedigree chart, how are different individuals represented?
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What pattern of inheritance is suggested by vertical transmission of a disease trait in a pedigree?
Autosomal dominant inheritance.
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What pattern of inheritance is excluded when male-to-male transmission of a trait is observed?
X-linked inheritance.
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What is meant by the genetic concept of incomplete penetrance?
An individual carries a pathogenic mutation but does not develop the phenotype, or develops it only later in life.
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What is pseudodominance in the context of genetic inheritance?
A situation where a recessive disorder appears to follow a dominant inheritance pattern due to a high carrier frequency within a population.
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How is an individual defined as an obligate carrier in a pedigree?
An individual who has transmitted a disease trait to their offspring, even if they show no symptoms or the condition is lethal.
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In a pedigree, what does the presence of two lines connecting individuals represent?
Consanguinity.
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For a recessive disorder, what is the probability that an unaffected sibling of an affected individual is a carrier?
\(2/3\)
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What kind of disorder is SMA1 (Spinal Muscular Atrophy Type 1)?
A recessive, genetic neuromuscular disorder characterized by the progressive wasting of muscles and the loss of motor neurons in the spinal cord.
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What is meant by recurrence risk in genetic counseling?
The probability of having a child with the same disorder.
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What proportion of their genome do siblings share on average?
\(1/2\)
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What proportion of their genome do first cousins share on average?
\(1/8\)
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Why does consanguinity increase the risk of recessive disorders?
Because consanguineous individuals are more likely to share the same recessive pathogenic variant inherited from a common ancestor, increasing the probability of their offspring being homozygous for the mutation.
Kartlarına buradan göz at, veya sign up to study with spaced repetition.
In a pedigree chart, how are different individuals represented?
What pattern of inheritance is suggested by vertical transmission of a disease trait in a pedigree?
Autosomal dominant inheritance.
What pattern of inheritance is excluded when male-to-male transmission of a trait is observed?
X-linked inheritance.
What is meant by the genetic concept of incomplete penetrance?
An individual carries a pathogenic mutation but does not develop the phenotype, or develops it only later in life.
What is pseudodominance in the context of genetic inheritance?
A situation where a recessive disorder appears to follow a dominant inheritance pattern due to a high carrier frequency within a population.
How is an individual defined as an obligate carrier in a pedigree?
An individual who has transmitted a disease trait to their offspring, even if they show no symptoms or the condition is lethal.
In a pedigree, what does the presence of two lines connecting individuals represent?
Consanguinity.
For a recessive disorder, what is the probability that an unaffected sibling of an affected individual is a carrier?
\(2/3\)
What kind of disorder is SMA1 (Spinal Muscular Atrophy Type 1)?
A recessive, genetic neuromuscular disorder characterized by the progressive wasting of muscles and the loss of motor neurons in the spinal cord.
What is meant by recurrence risk in genetic counseling?
The probability of having a child with the same disorder.
What proportion of their genome do siblings share on average?
\(1/2\)
What proportion of their genome do first cousins share on average?
\(1/8\)
Why does consanguinity increase the risk of recessive disorders?
Because consanguineous individuals are more likely to share the same recessive pathogenic variant inherited from a common ancestor, increasing the probability of their offspring being homozygous for the mutation.
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