Discovery of Human Disease Genes

Question 1

What are monogenetic disorders?

Answer 1

Caused by mutations in a single gene

Question 2

What is autosomal dominant inheritance?

Answer 2

Where mutations in one copy of the gene is necessary to cause disease
Unaffected individuals have unaffected offspring

Question 3

What is autosomal recessive inheritance?

Answer 3

Mutations in both copies of the gene are necessary to cause the disease
Both parents have to be carriers

Question 4

What is X-linked recessive inheritance?

Answer 4

Mutations in one copy of the gene are necessary to cause the disease
Females with one mutated copy of the gene are normal
Incidence much higher in males

Question 5

What is genetic linkage?

Answer 5

Where DNA regions in close proximity are more likely to be co-inherited than DNA regions further apart

Question 6

What is the LOD statistical test for?

Answer 6

To detect the presence of linkage
LOD score > 3 is consistent with linkage
LOD score < -2 linkage can be excluded