Genetic Terms

Question 1

Pleiotropy

Answer 1

One gene contributes to multiple phenotypes

Question 2

Dominant Negative Mutation

Answer 2

When a heterozygote produces a non-functional protein that also prevents normal gene product from functioning

Non-functioning mutant transcription factor still binds DNA thus blocking normal wild type transcription factor from binding

Question 3

Locus heterogeneity

Answer 3

Mutations at mult loci can produce same mutant phenotype

Question 4

Allelic heterogeneity

Answer 4

Diff mutations at same loci can produce same mutant phenotype

Question 5

Heteroplasmy

Answer 5

Both normal and mutated mitochondrial DNA –> variable expression of mito diseases

Question 6

Uniparental Disomy

Answer 6

Receive 2 copies from 1 parent and none from other parent

Hetero - meiosis I error

Isodisomy - meiosis II error

Question 7

Imprinting

Answer 7

Named for the parents whose copy is inactive

Question 8

4 HW Law Assumptions + Formulas

Answer 8

• no mutations at locus
• no natural selection
• random mating
• no net migration

p = dom and q= rec

p^2 + 2pq + q^2 = 1

p + q = 1