Genomics Flashcards
What is the definition of a gene?
A sequence of nucleotides that encodes the sequence of amino acids that make up a protein.
What are the nucleotides?
A, G, T, C.
T turns into U in RNA
What are the complementary pairs of the nucleotides?
A pairs with T (U) and G pairs with C.
What is the meaning of translation?
3 letters per codon ad each 3 letter sequence codes for a different amino acid.
What happens if you stack amino acids?
Change the polarity and shape.
What are the 2 types of mutations?
Lethal (can kill) and ineffective.
What is the exon region?
Coding region (protein sequence).
What is the intron region?
Non- coding region (regulatory sequence).
What is post- translational modification?
Adding carbs, lipids, modifying the side chains, adding chemical regulators.
What is a pseudogene?
This is a non-functional or damaged gene sequence.
What is a genotype?
Someones complete set of genetic material including various variant genes that they carry.
What are the causes of genetic variation?
-sexual reproduction (meiosis)
-genetic recombination events
-random fertilisation
What is a missense mutation?
Where a single nucelotide is substituted for another one (could result in different amino acid).
What are physical types of variant?
-insertions or deletions
-substitution
-repeat variation
-chromosomal variations
