Genetic Mutations and Disease Inheritance Flashcards
What types of mutations can lead to diseases?
-Point mutations: Single nucleotide changes (e.g., sickle cell anemia).
-Deletions/insertions: Loss or addition of nucleotides (e.g., cystic fibrosis).
-Chromosomal mutations: Large-scale changes like duplications or translocations.
How do genetic mutations cause diseases?
How do genetic mutations cause diseases?
How are genetic diseases inherited?
Through the transmission of mutated alleles from parents to offspring via Mendelian inheritance patterns.
What are the major patterns of genetic inheritance?
-Autosomal dominant: Only one copy of the mutated allele is needed (e.g., Huntington’s disease).
-Autosomal recessive: Two copies of the mutated allele are required (e.g., cystic fibrosis).
-X-linked: Mutation is on the X chromosome (e.g., hemophilia).
-Mitochondrial inheritance: Mutation in mitochondrial DNA, inherited maternally (e.g., mitochondrial myopathy).
How does a recessive mutation cause disease?
Both alleles must carry the mutation, as one functional allele is usually sufficient for normal function.
What is a carrier?
An individual with one mutated and one normal allele for a recessive condition; they do not show symptoms but can pass the mutation to offspring.
How do dominant mutations cause disease?
A single mutated allele can produce a harmful protein or disrupt the function of the normal protein.
How can genetic testing help in identifying inherited diseases?
By detecting specific mutations in an individual’s DNA, aiding in diagnosis and risk assessment.
Can environmental factors influence genetic diseases?
Yes, environmental triggers can interact with genetic predispositions to influence disease severity or onset (e.g., lung cancer in individuals with genetic susceptibility).
What is an example of a disease caused by a point mutation?
Sickle cell anemia, caused by a single nucleotide change in the HBB gene.
