Pedigree

Question 1

Quality of phenotype?
Location?
Genetic vs. Environment?

Answer 1

• Dominant v. recessive
• Autosomal v. recessive
• G = Duschenne
  E = Scurvy

Question 2

Mendels Laws:

1. ) Segregation?
2. ) Independent Assortment?

Answer 2

1. ) At meiosis, each allele segregates to different gametes

2. ) At meiosis, segregation is indepndent

Question 3

Mitochondrial inheritance?
Hemizygous?
Semi dominant?
Stochastic effects?

Answer 3

• Passed down from mom to all her children
• Single copy of gene; Ex: XY
• Heterozygotes have intermediate phenotype
• Random effects effect expressivity

Question 4

Proband?

Consult band?

Answer 4

• Person who brought disorder to light (affected)

- Brings family to attention (may or may not be affected)

Question 5

Traits of inheritance patterns:

1. ) AR (3)
2. ) AD (1)
3. ) XR (2)
4. ) XD (2)

Answer 5

1. ) Horizontal pattern; affected children with unaffected parents; increases with consanginuity
2. ) Vertical inheritance pattern
3. ) Increase in males, affected males pass onto daughters and not sons
4. ) Increased in females, affected fathers pass on to all daughters