Fundamentals in Genetics Flashcards
What is the role of RNA polymerase?
Converts DNA into messenger RNA
What is a missense variant?
An alteration in which a single base pair substitution alters the genetic code to produce a different amino acid than usual
What is a nonsense variant?
An alteration that causes a premature termination of a protein
What is a frameshift variant?
An insertion or deletion that results in premature termination of a protein
What is a splicing variant?
An alternation at the boundary of an intron and exon resulting in an altered protein sequence
What is a trinucleotide repeat variant?
Sequences of 3 nucleotide repeats
What is expression?
The degree to which a disorder is expressed in an individual
What is penetrance?
The proportion of individuals with the gene mutation who are clinically affected
What is anticipation?
With each subsequent generation the disease displays increasing severity and/or earlier age of onset
What is heteroplasmy?
Mixture of mitochondrial DNA copies with mutations and normal mitochondrial DNA copies
What is homoplasmy?
All mitochondrial DNA copies have mutations
What is imprinting?
Differential expression of a gene according to the parent of origin
What is uniparental disomy?
Person receives two copies of a chromosome/part of a chromosome from one parent and no copies from the other parent
