Pedigree Analysis

Question 1

Threshold to detect is a disease is rare or not

Answer 1

1 in 2000

Question 2

Most common autosomal dominant genetic disease

Answer 2

Familial hypercholesterolemia

Question 3

Most common autosomal recessive genetic disease

Answer 3

Sickle cell anemia and cystic fibrosis

Question 4

Most common X-lined genetic diseases

Answer 4

Duchenne Muscular Dystrophy

Question 5

Autosomal recessive

Answer 5

skips generations
affected offspring from unaffected parents

Question 6

Autosomal dominant

Answer 6

does not skip generations
affected offspring from affected parents
male-to-male transmission

Question 7

X-linked recessive

Answer 7

more males than females
skips generations
affected sons from unaffected mothers
all daughters of affected males are carriers
NO male-to-male inheritance

Question 8

X-linked dominant

Answer 8

does not skip generations
males are affected from affected mothers
all daughters of affected males are affected
no male to male transmission

Question 9

Y-linked

Answer 9

only males are affected
does not skip generations

Question 10

Parental imprinting

Answer 10

if the mutation is inherited from the mother, the mutation shows up and causes the disease
if the mutation is inherited from the father, his allele is silenced and the mutation skips one generation

Question 11

Maternal imprinting

Answer 11

if the mutation is inherited from the father, the mutation shows up and causes the disease
if the mutation is inherited from the mother, her allele is silenced and the mutation skips one generation