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Chromosome mutation
Alters the number of an entire chromosome, not its sequence.
Subchromosomal mutations
Alters the structure of part of one or more chromosomes, including large duplications, deletions, inversions, and translocations.
DNA mutations
Comprises 'small' changes in DNA sequence, including substitutions, deletions, and insertions of 1-100 kb.
Errors in chromosome segregation
Common occurrences of errors during meiotic divisions, with over 1 error occurring in every 25-50 divisions.
Non-homologous end joining (NHEJ)
A process that joins spontaneous double stranded DNA breaks, which can lead to translocations and inversions.
Non-allelic homologous recombination
Recombinations between related sequences that can cause duplications, deletions, and inversions.
DNA replication mutations
Mutations are rare due to proofreading, occurring at a rate of less than 1 mutation per genome per cell division.
Somatic mutations
Mutations that occur in somatic cells (do not produce gametes) and are found in the descendants of the cells in which the mutation occurred.
Germline mutations
Mutations that occur in germ cells (produce gametes) and are transmitted to offspring, responsible for most inherited genetic diseases.
DNA damage
Approximately 10^4 to 10^6 nucleotides are damaged per cell per day due to mutagens and spontaneous chemical processes.
Spontaneous deamination
The most common type of DNA damage where 5-methylcytosine is converted to thymine at CpG doublets.
Inversions and translocation
Types of alterations that can happen within subchromosomal mutations.
Reference sequence
The most common sequence in a population.
Locus
A segment of DNA occupying a particular location on a chromosome.
Allele
Alternative versions of a locus.
Wild type allele
The most common allele, usually present in > 50% of the population.
Variant (mutant) allele
Less common alleles in a population.
Private allele
Very rare alleles found in a population.
Polymorphism
Alleles with frequency > 1% in a population.
Single-nucleotide Polymorphism (SNP)
Single base pair substitutions that usually have 2 alleles.
Indel
Insertions and deletions, the most common polymorphisms typically ranging from ~1-1000 bp in length.
Copy number variant
Changes in number of copies of DNA segments (~100 to 1 Mb), often spanning multiple genes.
Amorphic alleles
Completely eliminates gene activity (Example: premature stop codon)
Hypomorphic alleles
Reduced gene activity, but not eliminated.
Hypermorphic alleles
Increased gene activity (Example: gene duplication, or deletion in repression sequence)
Antimorphic alleles (dominant-negative)
Produces a "poisoned" product that makes other wild type alleles less effective.
Neomorphic alleles
New function; gene product does something it shouldn't.
Synonymous Mutation
Functionally silent mutations that do not change the amino acid sequence of a protein.
Nonsynonymous Mutation
Mutations that result in a change in the amino acid sequence of a protein.
Frameshift Mutation
Mutations that change the entire reading frame of the genetic code due to insertions or deletions.