The Mutated Genome Flashcards
What is DNA’s role?
An information storage device
What does DNA store?
Information to make a human
What are the 4 nucleotides?
Cytosine, Guanine, Adenine, Thymine
How many chromosomes in humans?
46
What is the central dogma?
The flow of information from the DNA to the final protein
What does DNA get transcribed into?
RNA
What does RNA get processed into?
mRNA
What does mRNA get translated into?
A protein
Differences between DNA and RNA
DNA Double stranded, RNA single stranded
DNA has Thymine, RNA has Uracil
DNA has deoxyribose, RNA has Ribose
How are amino acids made?
3 Nucleotides combined
All proteins start with what 3 nucleotide code?
AUG, or Methionine
All proteins stop with what 3 nucleotide series?
UAA, UAG, UGA
How many genetic differences are there from person to person?
15 million
What are single based substitutions?
Where one nucleotide is swapped for a different one
What does a silent substitution do?
A nucleotide is changed but the amino acid doesn’t change
What does a Missence substitution do?
A nucleotide is changed and the amino acid changes
What is a nonsense substitution?
A nucleotide is changed and it codes for a stop codon
What are indels?
Where a nucleotide is inserted or deleted from DNA, effecting the reading frame
What is Monosomy?
Loss of a chromosome
What is Trisomy?
An extra chromosome
What is Tetrasomy?
Two extra chromosome
What is Haploidy?
Losing an entire chromosome set, having 23 total
What is Diploidy?
Having two sets of chromosomes, having 46 total
What is Triploidy?
Having 3 sets of chromosomes, having 69 total
Do polymorphisms cause disease?
No, they increase disease risk
What gene determines eye colour?
EYCL3 Gene on chromosome 15
What is Pharmacogenetics?
Analysing people’s genotypes and phenotypes to change drugs, “Personalised medicine”
Can mutations cause disease?
Yes
Cystic fibrosis is most common in which ethnicity?
Caucasian
Mutations are caused by?
Exposure to mutagens, a form of genotoxins, e.g. Red Meat, Burnt Toast
What is are mutagens that affects developing foetus?
Teratogens, e.g. Thalidomide
