Typical and Atypical Mendelian Inheritance Mechanisms Flashcards
1
Q
What are the features of AD inheritance?
A
- Vertical pattern
- Equal frequency/severity between males and females
- Variable expressivity
2
Q
What is variable expression?
A
- Same gene affects people differently
3
Q
What is incomplete penetrence?
A
- Have the fault but don’t develop the disease
4
Q
What is mosaicism?
A
- Gene fault arises during mitosis, post fertilisation meaning the individual possesses normal and abnormal cell line
5
Q
What are the features of AR inheritance?
A
- Heterozygotes usually unaffected
- Homozygotes/compound heterozygotes affected
- Horizontal pattern
- Both males and females affected
6
Q
What is pseudoautosomal inheritance?
A
- Where recombination between X and Y chromosomes pseudoautosomal regions allowing genes in sex-linked conditions to be inherited in an autosomal-like fashion
7
Q
What are the differences between X-LR and X-LD inheritance?
A
