Mutated Genotype Flashcards
(24 cards)
What is a Central Dogma?
Flow of information from to DNA to final protein
How does DNA become a Protein?
First DNA is transcribed into RNA. RNA is then processed into amRNA. MRNA is then translated into Protein.
What does RNA have that DNA doesn’t?
-Ribonucleic Acid
- Single Nucleobase
- Ribose Sugar
- Uracil GCA
-Single Stranded Sugar
What does DNA have that RNA doesn’t?
- Deoxyribonucleic Acid
- Base pair
- Deoxyribose sugar
- Thymine GCA
- Double Stranded Sugar’
What does AUG code for?
Methionine (Met)
What is Met?
A Start Codon
Which Nucleotide 3’s code for Stop Codons?
UAA, UAG, UGA
What does UGG code for?
Trp
What is the genetic difference between one another?
0.5% (15 million differences)
What is a Single a base Substitution?
Replacement of a certain nucleotide
Name 3 Single Base Substitutions
Silent, Missense, Nonsense
What is Silent Mutation?
It does not change the amino acid.
What is a a Missense Mutation?
It changes the type of amino acid.
What is a Nonsense Mutation?
It changes amino acid to a Stop Codon, which cause massive effect.
What is Insertion?
A Nucletide has been inserted into the DNA.
What is Deletion?
A Nucleotide has been deleted from the DNA.
What does In/Del do?
Disrupts reading frame (reading the codes in groups of 3)
What is a copy number variant?
Nucleotides are either deleted or duplicated in the DNA (ABD or ABCCD)
What is the gene dosage and what is its ideal number?
Amount of copies of a gene, 2
Give an example of a disease caused by a copy number variant.
Huntington’s Disease: More than 40 copies of Huntingtin code = + , 35 or less = negative
What is a structural variant?
Mutation which effects the structure of a chromosome.
True or False? Structural Variants can be seen on a Karyotype
True
True or False? The Bigger the structural variant the lesser the effect
False, bigger the change,bigger the effect
Types of Structural variants
Inversion (rearrangement “flipped around”), duplication/deletion, translocation
