3. Mendelian Inheritance I (Classic Modes of Mendelian Inheritance) Flashcards
Ter or * =
STOP CODON
A standardised system of nomenclature:
What does
c.
g.
p.
m.
r.
stand for in genetic nomenclature?
Interpret this sequence.
What is the sequence for Coding DNA?
What is the sequence for Genomic DNA?
Protein
* DNA mutations that affect the corresponding protein
* Three letter abbreviation is preferred
* “_.” nomenclature:
* Begins with the affected _____ ______
* Uses amino acid position in the protein chain
p
amino acid
Where are codon numbers written?
What is the sequence for protein?
What are silent mutations?
What are missense mutations?
What are nonsense mutations?
What are Intronic mutations?
Indels
* Use ____ for deletions and ins for insertions
* The _______ position or amino acid symbol comes first
del
nucleotide
Indels
* Use del for deletions and _____ for insertions
* The nucleotide position or amino acid symbol comes first
ins
Duplications
* Use “____” to indicate a duplication event
dup
- Mutation nomenclature is always written from the perspective of the NORMAL sequence
List an example:
What makes us different/ unique? (3)
- Normal genetic variation
- How?
- Mutation
- Genetic drift
- Natural selection
- Learn about mutations and their consequences
What is a mutation?
How do mutations occur? (2)
Mutations can be _______ or ______.
somatic
germline
What are somatic mutations?
What are germline mutations?
What are Static variants?
- No change when passed to offspring
- Examples:
- Point mutations (single nucleotide substitutions)
- Deletion / Insertion mutations
- Splice site mutations