Autosomal Dominant Disorders Flashcards
What is single gene disorder
Mutations in a single gene cause a loss of function which leads to the condition.
What is a multifactorial gene disorder
Variants in multiple genes interact with environmental factors to cause alteration in function.
What is a chromosomal gene disorder
Chromosomal imbalance causes alteration in gene dosage
What is a somatic gene disorder
Both alleles involved with the gene are inactivated
What is a mitochondrial gene disorder
A mutation in mtDNA. Mainly effects organs and organ systems with high energy requirements.
Where are the genes controlling the function and structure of the mitochondria found
In both mitochondrial and nuclear DNA
What are the 3 different types of single gene disorders
- Dominant Gene Disorder
- Recessive Gene Disorder
- X-linked Recessive
How do mutations cause the loss of allele function
The allele will no longer code for a viable protein and so does not have its intended effect
What determines whether autosomal condition presents as dominant or recessive
Whether the body can cope with loosing half the function of that gene
Give 2 example of when the body cannot cope with half the amount of gene produced
- Structural proteins
- Receptors
Give an example of when the body cannot cope with half the amount of gene produced
- Enzymes
Give an example of an autosomal dominant condition
Marfan Syndrome
What causes Marfan Syndrome
A mutation in the gene that makes fibrillin
Give some features of Marfan Syndrome
- Tall
- Long arm span
- Deformed chest wall
What parts of the body does Marfans syndrome effect
- Eyes
- Heart
- Skeletal muscle
