Hummel Terms

Question 0

Heterogeneity

Answer 0

Many genes give one phenotype

Question 1

Polymorphism

Answer 1

Variation in DNA at a locus

Paternity test, forensics

Question 2

Compound heterozygote

Answer 2

Both alleles abnormal, but different variations

Question 3

Penetrance

Answer 3

All or none

“Low” means no phenotype

Question 4

Expressivity

Answer 4

Shades of gray

“Low” = mild phenotype

Question 5

Consanguinity

Answer 5

Blood relation

Question 6

Hemizygote

Answer 6

One copy of altered gene on X chromosome causes disease in male (X linked)

Question 7

Lyonization

Answer 7

X inactivation in females resulting in expression of a recessive trait

Question 8

Heteroplasmy

Answer 8

Individual has different mtDNA

Question 9

Homoplasmy

Answer 9

Person has all same mtDNA

Question 10

Anticipation

Answer 10

Increased severity of disease in successive generations

Question 11

Premutation

Answer 11

Expansion of repeated segments that’s unstable but not associated with disease

Question 12

Polygenic

Answer 12

Trait affected by more than one gene

Question 13

Multifactorial

Answer 13

Trait affected by more than one gene and interaction with environment