Autosomal Dominant

Question 1

• Characteristics? (4)
• Lethality?
• Clinical presentation? Penetrance?
• Genocopy?
• Phenocopy?
• Pure dominant?

Answer 1

• vertical pedigree, often late onset, often involve structural protein, variable phenotypes
• Typically less
• Wide range, variable
• Mutation in different gene causes syndrome
• Syndrome caused by environment mimics disease
• Homo/heterozygotes both affected

Question 2

1. ) Achondroplasia:
   - Mutated protein? Inhibits what?
   - What percent are novel mutations? From whom?
   - Homozygotes?
2. ) Marfan’s:
   - Affected gene? What is affected?
   - Clinical presentation?
3. ) Neurofibromatosis 1:
   - Affected gene? Function change?
   - Clinical presentation?

Answer 2

• FGF-R3 Protein; chondrocyte production
• 80%; fathers gametes
• Lethal
• Fibrillin gene; connective tissue
• Etopic lentis, part. aorta
• NF-1 gene mutation; Loss of function
• Cafe-au-lait spots, peripheral nerve tumors

Question 3

4. ) Huntington’s Disease (neuronal atrophy):
   - Caused by? Cut off for penetrance?
   - Homo/heterozygosity?
5. ) Familial Alzheimers:
   - Although this is mostly?
   - What may have an effect?
6. ) Polycystic Kidney Disease:
   - Phenotype?
   - Example of what? Why?
7. ) Familial hypercholesterolemia:
   - Mutation to?
   - Phenotype?

Answer 3

• Expansion of CAG (paternal anticipation); >39 = full penetrance
• Both affected equally
• Sporadic
• Paternal age; increased risk with father >39
• Renal Cysts
• Locus heterogeneity = PDK1 and PDK2 are on different chromosomes but either mutation causes disease
• LDLR mutation
• Xanthma/CAD/High LDL