Inheritance and Testing in Genetic Disease

Question 1

penetrance meaning

Answer 1

Proportion of people with a particular genetic change that go on and exhibit the signs and symptoms of that genetic disorder

Question 2

Autosomal dominant inheritence

Answer 2

Males and females equally affected

Question 3

Autosomal recessive inheritance

Answer 3

Males and females equally affected

Question 4

X linked recessive inheritance

Answer 4

Males and females
Males mainly affected
Never see male to male transmission

Question 5

X linked dominant inheritance

Answer 5

Both males and females often more females.
Affected males to all daughters but not to their sons
Males usuallly more severely affected than females

Question 6

Y linked inheritance

Answer 6

Affected males only

Affected males transmit to all sons

Question 7

Mitochondrial inheritance

Answer 7

Affect both males and females.
males to do not pass from daughter or sons because all mitochondrial genome comes from maternal contribution
Affect both males and females
Females pass on to all offspring

Question 8

What is CADASIL

Answer 8

Most common hereditary vascular dementia

Question 9

What mutation causes CADASIL?

Answer 9

Mutation in NOTCH3 gene

Question 10

What type of disease is huntingtons?

Answer 10

Autosomal dominant

Question 11

What is huntingtons caused by?

Answer 11

Triplet repeat expansion in 1215 gene

Question 12

What disease is CF?

Answer 12

Recessive autosomal disease