Week 5- Modes of Inheritance Flashcards
How many individual chromosomes do adults have and so how many pairs? How many of these are autosomal?
46 chromosomes
23 pairs of chromosomes
22 autosomal chromosomes
How do we know if a disorder is autosomal dominant?
It manifests in heterozygotes
What is the pedigree pattern of an autosomal disorder?
Vertical
What is osteogenesis imperfecta? What type of inheritance pattern does it follow?
Mutation in the gene for collagen production leads to weaker bones. Autosomally dominant inheritance
What is the pedigree pattern of an autosomal recessive disorder?
Horizontal
What is the mode of inheritance for cystic fibrosis?
Autosomal recessive
What is a X linked disorder?
Present on X chromosome so always affects males more (they only have one X chromosome), if the disorder is dominant and a father is affected all daughters will be
What is mitochondrial inheritance?
The mutation is in mt DNA, so inherited only via mother and all children will be affected. Extent of illness will depend on how much mutated mitochondria is inherited and the severity of the mutation