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Questions and Answers
What can cause genetic diseases?
What can cause genetic diseases?
- Abnormalities during mitosis or meiosis causing an abnormal number of chromosomes per cell
- Alteration in DNA sequence affecting a single gene product (correct)
- Mutation of the gametic cell during embryogenesis
- Structural rearrangements resulting in deletion or duplication of closely linked genes
In which scenario does an affected individual have a 'de novo variant'?
In which scenario does an affected individual have a 'de novo variant'?
- Mutation of the somatic cells of the affected individual
- Mutation of the gametic cell during early embryogenesis
- Mutation of the gametic cell during its development (correct)
- Mutation of the somatic cells of the parent
What is a characteristic of an affected individual with a mosaic of abnormal and normal cells?
What is a characteristic of an affected individual with a mosaic of abnormal and normal cells?
- Every cell in the affected individual carries the mutated gene due to inheritance via a mutant egg or sperm cell
- Tissues contain a mixture of abnormal and normal cells due to variants arising during early embryogenesis (correct)
- Mutation of the somatic cells results in abnormal tissues in the affected individual
- Somatic cells of the parent do not carry the variant, and the affected individual is said to have a 'de novo variant'
What is the main cause of genetic diseases?
What is the main cause of genetic diseases?
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What can result in an affected individual carrying mutated genes in every cell?
What can result in an affected individual carrying mutated genes in every cell?
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