L3PattersSingleGene Flashcards
What type of disorder only occurs in individuals who have 2 copies of a mutation?
Autosomal Recessive
What are the 3 Autosomal Recessive disorders we discussed?
1.Sickle Cell Anemia 2.Cystic Fibrosis 3.Amelogenesis Imperfecta
What type of disorder causes LOSS of a functional product?
Autosomal Recessive
What are the 3 mechanisms of disease?
1.HaploInsufficiency 2.Gain of Function 3.Dominant Negative
Mechanisms of disease: Not enough product produced
HaploInsufficiency
Mechanisms of disease:Protein does something it doesn’t normally do (or does its usual job better)
Gain of Function
Mechanisms of disease: Mutant protein interferes with function of wildtype protein
Dominant Negative
What are the 4 Autosomal Dominant Disorders?
1.Achondroplasia 2.Neurofibromatosis 3.Amelogenesis Imperfecta 4.Hereditary Gingival Fibromatosis
What is the light switch and what is the dimmer switch?
light switch: penetrance….dimmer: variable expressivity
What Autosomal Dominant disease has the HIGHEST mutation rate of any disorder?
NeuroFibromatosis Type 1 (up to 0.5 of the new cases are from mutations)
What is NeuroFibromatosis Type 1 a prime example of?
Variable Expressivity
What is the official term for random X inacitvation?
Lyonization
What are two X-linked recessive disorders?
Hemophilia A, Duchenne muscular dystrophy
What are the ways a female can receive an X linked recessive disorder? (LOTS!…5 of them!)
1.Lyonization of a recessive allele (inactivated the dominant allele) 2.Affected father and carrier mother c/o support groups ;) 3.Consanguinity 4.Uniparental Disomy 5.Turner syndrome (45,X)
What type of disorder has ALL affected females and no affected sons?
X linked Dominant
