Module 1 Flashcards
What is a missense mutation?
When the mutation results in one protein becomes exchanged with another.
What is a nonsense mutation?
When one protein is exchanged with a stop codon.
What is a silent mutation?
When the protein synthesized does not change even with mutation.
What us Polymerase Chain reaction (PCR)?
The process of amplifying or copying DNA in the lab.
How do DNA strands multiply when going through PCR?
In every stage they double.
What kind of repair mechanism is used when bases are damaged from harmful molecules?
Base excision. (One bases exchanged form another).
What kind of repair mechanism is used when bases are mismatched due to errors in replication?
Mismach repair.
What kind of repair mechanism is used when there are double stranded breaks in the DNA>
Homologous Recombination (best way). Non-homologous end-joining (last resort).
What kind of repair mechanism is used when there is damage from UV that causes adjacent nucleotides to fuse together?
Nucleotide excision repair where 20-30 nucleotides are removed.
Whats the difference between autosomal chromosome and sex-linked inheritance.
Autosomal has no bias toward gender and can affect any chromosome from 1-22. Sex-linked is gender specific and effects on the 23rd chromosome.
If you have a pedigree that affects only males from carrier parents what type of disorder do you have?
X-linked recessive.
If you have a pedigree that affects males and females equally from carrier parents, what type of disorder do you have?
Autosomal Recessive.
If there is no carrier parent what type of trait do you have?
Dominate.
If you have a pedigree where where all the daughters of an affected male have the trait what type of disorder do you have?
X-Linked dominant.
If you have a pedigree where where there is no bias of gender of an affected male who has the trait, what type of disorder do you have?
Autosomal Dominate.
