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15 Cards in this Set

  • Front
  • Back
Name the 3 modes of single gene (mendelian) inheritance?
Autosomal Dominant
Autosomal Recessive
Sex - Linked (X and Y)
What are the 5 complications of AD inheritance?
Variable Expressivity
Non-penetrance or incomplete (age related penetrance)
Anticipation
Imprinting
Mosaicism
What is Variable Expressivity and what causes it?
Phenotype may be different (severity, location) in parent than in child.
Modifiying genes
What is non-penetrance?
When the genetic trait is present, but isn't manifested in the phenotype due to non-genetic causes.
What is an example of 2 AD disease states?
Which one is an example of age related penetrance?
Osteogenesis imperfecta
Huntington's disease ***
What is mosaicism?
When the mutated allele only presents in certain tissues.
ex. germline mosaicism only present in sperm.
Who is responsible for transmitting the disease in X-linked recessive diseases?
Carrier (asymptomatic) mothers
Name two examples of this type of disease state.
Duchennes muscular dystrophy
Hemophilia A
Who is predominantly effected?
Males
X-linked dominant traits are very rare and effect who?
either sex equally.
When looking at a pedigree, what is the difference between Autosomal dominant and X-linked dominant?
X-linked dominant
All daughters of affected males are affected.
What is Candidate gene analysis?
When is it used?
Screening/sequencing of candidate genes.
Example = see broken bones. know collagen is most abundant protein in bone. sequence collagen for that mutation.
What is Genetic Linkage Analysis?
When is it used?
It is the use of polymorphic markers (simple sequence variations) that have precise chromosomal locations. Used when there is no obvious candidate gene to find location of diseased gene.
How is Linkage analysis computed and analyzed?
It is scored by generating a large amount of data into an equation which gets you a lod score. A lod score over 3 means that you have a greater than 1000:1 chance that the marker is linked to the diseased gene. 1-3 = suggestive. Less than 3 indicate absence of linkage.
Recessive diseases generate this
Dominant disease can generate both of these
2 mutated alleles --> loss of gene product
1 mutated allele --> half of normal product (haplosufficiency)
or abnormal product reacts with normal product to yield less than 50% normal protein (dominant negative)