Genetic Variation Flashcards
What techniques analyse genes and detect mutations
PCR
Sequencing - Conventional
- Next generation
What is a missense mutation
A base change causes amino acid to change
results in different and non-functioning protein
What is a nonsense mutation
Base change causes premature stop codon
Resulting in short or absent protein
What types of insertion and deletion mutations are there
In frame or out of frame
What is a splice site mutation
Affects splicing locations so some introns retained and some exons cut out (abnormal or absent protein as outcome)
what can mutations do to a gene
Activate or inactivate it
What 2 levels of describing mutations are there
peptide level (p.)
mRNA level (c.)
What is Polymerase chain reaction- PCR
amplifies a small piece of DNA to allow greater investigation of the many copies
What is multifactorial inheritance
When more than 1 factor is causing the trait/ health problem e.g. chronic illness or birth defect
What is the common disease common variant hypothesis
hypothesis states that the genetic component to most common disorders is due to a relatively large number of disease-causing alleles that occur relatively often in the population
What does the 97-98% of genome do that is not exons
- Regulated genes
-Spaces genes out
-Provides substrate to expand the genome
What DNA analysis can scan whole genome
aCGH
-checks for deletions and duplications
(Chromosome/ karyotype analysis for balanced rearrangements)
What DNA analysis analyses small segments of the genome
PCR, Sanger sequencing or next generation sequencing
What is a mutation
Genetic variation causing a disease
What is a polymorphism
Genetic variation that is prevalent in the population and not, itself causing the disease
What is a promoter mutation
Affects the promoter resulting in no or reduced transcription= no or reduced protein
