Pedigrees and Inheritance

Question 1

What are the 2 hallmarks on autosomal dominance?

Answer 1

• Vertical transmission
• male to male transmission is possible (not in x-linked)
• 50% chance of passing it onto offspring

Question 2

What are the hall marks of an autosomal recessive pedigree?

Answer 2

Horizontal transmission even if neither parent is affected.

Question 3

What are the hallmarks of X-linked inheritance?

Answer 3

Only vertical transmission of disease from mother to son. There is an absence of male to male transmission

Question 4

List the 3 diseases related to autosomal dominance:

Answer 4

• Neurofibromatosis
• BRCA1
• Huntingtons

Question 5

List the 3 diseases related to autosomal reccessive pedigrees:

Answer 5

• Sick Cell
  -Phenylkeaneuria
  Cystic Fibrosis

Question 6

What is incomplete penetrance?

Answer 6

Expression skips a generation!

Question 7

List the hallmarks of mitochondrial transmission:

Answer 7

All affected individuals are related through the maternal line, no trasmission from males