Podcast
Questions and Answers
What are the causes of genetic diseases?
What are the causes of genetic diseases?
- Alteration in DNA sequence (correct)
- Mutations in non-coding regions of DNA
- Epigenetic modifications
- Changes in RNA structure
In genetic diseases, what does a 'de novo variant' refer to?
In genetic diseases, what does a 'de novo variant' refer to?
- A mutation of the gametic cell that arose during its development (correct)
- A mutation affecting all cells in an affected individual
- A mutation of somatic cells in the parent
- A mutation that occurred during early embryogenesis
What is the term for tissues of the affected individual containing a mixture of abnormal and normal cells due to variants arising during early embryogenesis?
What is the term for tissues of the affected individual containing a mixture of abnormal and normal cells due to variants arising during early embryogenesis?
- Chimeric
- Heterogeneous
- Mosaic (correct)
- Polymorphic
Which of the following is involved in causing genetic diseases?
Which of the following is involved in causing genetic diseases?
What is the consequence of structural rearrangements in genetic diseases?
What is the consequence of structural rearrangements in genetic diseases?
Which type of genetic disease is caused by abnormalities during mitosis or meiosis resulting in an abnormal number of chromosomes per cell?
Which type of genetic disease is caused by abnormalities during mitosis or meiosis resulting in an abnormal number of chromosomes per cell?
In genetic diseases, what is the term for mutation of the gametic cell that may have arisen during its development, in which case somatic cells of the parent do not carry the variant?
In genetic diseases, what is the term for mutation of the gametic cell that may have arisen during its development, in which case somatic cells of the parent do not carry the variant?
Which genetic disease may result in tissues of the affected individual containing a mixture, or mosaic, of abnormal and normal cells due to variants arising during early embryogenesis?
Which genetic disease may result in tissues of the affected individual containing a mixture, or mosaic, of abnormal and normal cells due to variants arising during early embryogenesis?
What type of genetic disease is caused by an alteration in DNA sequence that alters the synthesis of a single gene product?
What type of genetic disease is caused by an alteration in DNA sequence that alters the synthesis of a single gene product?
'Altered synthesis of a single gene product' is characteristic of which type of genetic disease?
'Altered synthesis of a single gene product' is characteristic of which type of genetic disease?
Flashcards
Genetic diseases causes
Genetic diseases causes
Alteration in DNA sequence leading to disease.
De novo variant
De novo variant
A mutation in a gametic cell occurring during its development.
Mosaic tissues
Mosaic tissues
Tissues with a mix of abnormal and normal cells from early embryogenesis variations.
Abnormalities in cell division
Abnormalities in cell division
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Structural rearrangements consequence
Structural rearrangements consequence
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Chromosomal disorder
Chromosomal disorder
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Germline mutation
Germline mutation
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Turner syndrome
Turner syndrome
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Monogenic disorder
Monogenic disorder
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Altered gene synthesis
Altered gene synthesis
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