このフラッシュカードはまだ保存されてないよ — 離れると消えちゃう。無料アカウントを作ると保存できて、下の機能も全部使えるようになるよ。
In a pedigree chart, how are different individuals represented?
ここでカードを閲覧するか、 sign up to study with spaced repetition.
What pattern of inheritance is suggested by vertical transmission of a disease trait in a pedigree?
Autosomal dominant inheritance.
ここでカードを閲覧するか、 sign up to study with spaced repetition.
What pattern of inheritance is excluded when male-to-male transmission of a trait is observed?
X-linked inheritance.
ここでカードを閲覧するか、 sign up to study with spaced repetition.
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.
ここでカードを閲覧するか、 sign up to study with spaced repetition.
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.
ここでカードを閲覧するか、 sign up to study with spaced repetition.
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.
ここでカードを閲覧するか、 sign up to study with spaced repetition.
In a pedigree, what does the presence of two lines connecting individuals represent?
Consanguinity.
ここでカードを閲覧するか、 sign up to study with spaced repetition.
For a recessive disorder, what is the probability that an unaffected sibling of an affected individual is a carrier?
\(2/3\)
ここでカードを閲覧するか、 sign up to study with spaced repetition.
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.
ここでカードを閲覧するか、 sign up to study with spaced repetition.
What is meant by recurrence risk in genetic counseling?
The probability of having a child with the same disorder.
ここでカードを閲覧するか、 sign up to study with spaced repetition.
What proportion of their genome do siblings share on average?
\(1/2\)
ここでカードを閲覧するか、 sign up to study with spaced repetition.
What proportion of their genome do first cousins share on average?
\(1/8\)
ここでカードを閲覧するか、 sign up to study with spaced repetition.
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.
ここでカードを閲覧するか、 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.
本当に削除しますか 0 単語カードを削除しますか？この操作は元に戻せません。
から削除するタグを選択してください 0 選択された単語カード:
タグを読み込み中...