AB Flashcards
Amorph
Loss of function
Genetic null
Complete loss of function
Hypomorph
Reduced gene function
Hypermorph
Increased gene function
Neomorph
New gene function
Antimorph
Dominant allele restricting wildtype function
Allelic
Affect the same gene
Give an example of a dominant negative allele
TRF2 forms a heterodimer with TRF1
TRF binds to telomeric DNA via myb domain
Both myb domains required for binding
TRF2 allele lacking myb causes wildtype TRF2 to be stripped off telomeres
Describe epistasis and give an example.
The situation in which one gene masks the expression of another
Eg, drosophila melanogaster: no wings allele masks curled wing allele
No wing epistatic to curled wing
Curled wing hypostatic to no wing
Order of function map
Ordering of genes in a pathway according to the step they control
Genes from the same pathway can be placed in a map via epistasis analysis
Epistasis
Interaction between alleles at different loci
Interaction between non allelic mutations
Karyotype
Description of chromosomal content if a cell
Obtained by staining of condensed chromosomes with agents with different binding affinities for DNA sequences
Eg G banding, SKY and mbanding
Types of chromosomal aberrations
Deletion
Duplication
Inversion
Translocation
Non allelic _________ ___________ between low ______ ________ ________ can cause variation in ________ _________ and deletions.
Eg. Williamson’s Beuren syndrome:
Homologous Recombination Copy Number Repeats Copy number
Unequal crossing over causes one recombinant with a duplication and one with a deletion
Chromosome inversions: types and effects
Paracentric: doesn’t involve centromere
Pericentric: doesn’t involve centromere
No DNA lost but phenotypic effects can be observed
Can cause disruption to genes/ fusion/ expression
Reciprocal translocations
Exchange of material between non homologous chromosomes
Results in one larger metacentric chromosome and one very small chromosome that may be lost with litttle effect
