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Types of Mutations

Terms in this set (14)

Genome mutation
Chromosome missegregation, 2-4x10^-2/cell division, ex. aneuploidy
Chromosome mutation
Chromosome rearrangement, 6x10^-4/cell division, ex. translocation
Gene mutation
Base pair mutation, 10^-5/locus/generation, point mutation
Balanced chromosomal rearrangement
Inversion, reciprocal translocation, Robertsonian translocation
Inversion
1 chromosome, 2 DSB, intervening sequence is inverted prior to rejoining, normal phenotype, may cause abnormal gamete
Pericentric inversion
Includes centromere
Paracenric inversion
Excludes centromere
Reciprocal translocation
Breakage and rejoining of non-homologous chromosomes with reciprocal exchange of broken segments, normal phenotype, increased risk of unbalanced gametes
Robertsonian translocation
Fusion of two acrocentric chromosomes within centromeric region, loss of both short arms containing rDNA repeats, phenotypically normal, unbalanced gametes
Unbalanced chromosomal rearrangement
Additional or missing material, abnormal phenotypes
Polymorphism
Mutation that is common, >1% of population
Founder effect
High frequency of mutant allele in population founded by small ancestral group when 1+ of original founders was carrier of mutant allele
Genetic drift
Random fluctuation of allele frequencies
Selection
Active selection of favorable alleles over non-favorable, depends on fitness (measure of chance allele will be transmitted to next generation)
THIS SET IS OFTEN IN FOLDERS WITH...