Inheritance

Question 1

Age of onset is earlier and earlier in successive generations OR severity of disease worsens with successive generations

Answer 1

Anticipation

Question 2

Classic example of anticipation in inheritance:

Answer 2

Huntington’s

Repeated trinucleotides

Question 3

Genotype is present, but may not always manifest phenotypically

Answer 3

incomplete penetrance

may explain skipped generations

Question 4

Severity of phenotype expression varies with individual

Answer 4

variable expression (tuberous sclerosis)

Question 5

Single gene has more than one effect on the individual’s phenotype

Answer 5

pleiotropy

example: PKU

Question 6

Mutations at different places on genome can produce same phenotype

Answer 6

locus heterogeneity

Question 7

Phenotype differences depends on whether mutation comes from father or mother

Answer 7

Prader-Willi - Deletion of gene on Chromosome 15 from Paternal allele

AngelMan - Maternal