Allele Classification Flashcards
Complete Dominance
haplosufficient
- 2 or 1 functional allele = phenotype
Recessive
0 functional allele = phenotype
Incomplete Dominance
haploinsufficient
- 1 functional allele = 1/2 phenotype
- property of functional allele – add extra functional allele
- property of mutant allele – restrict function
Silent Mutation
change sequence
NO change polypeptide sequence or phenotype
Misense Mutation
change sequence
change polypeptide sequence
change phenotype
Nonsense Mutation
change sequence
premature stop codon
change phenotype
Indels
Insertions/Deletions
Frameshift – move reading frame = diff codons/aa
Null Loss of Function
- recessive
- completely inactive
Hypomorphic Loss of Function
- recessive
- partially inactive (weaker phenotype)
Loss of Negative Regulation
- dominant
- operator constitutive = always expressed
Ras Growth
Ras GTP = growth
Ras GDP = no growth
Ras null loss of function = no growth
Ras stuck to GTP = always grow
Misexpression
- expressed in abnormal region
Dominant Negative
complex regulates activity
- protein in complex inactive = WHOLE complex inactive
Cancer
1) genetic variation in somatic cells
2) not inherited – inherit greater susceptibility
3) environment –> rate of somatic genetic variation
Functional Allele
Proto-oncogene
