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Transcript
The Tumornators
Isam Adam, Cody Boehner, Ella Dehestani, Jason Fong, Anissa Santiago
Friday Lecture Group Consensus
Key Points
 With a given mutation, it can be identified as either pathogenic, implicated,
associated, damaging, and deleterious mutations.
 A mutation in a “conserved” area will likely cause a major change because
“conserved” areas are the same among many organisms
 A disease can be categorized into different classifications, depending on how
much genetic, biochemical, and other information is given about the disease.
 If a person has the phenotype of a damaging disease, but it is incompletely
penetrant, the person may not have any symptoms.
Friday Lecture Group Consensus
Questions
 If an incompletely penetrant disease is heritable, and
a parent with an incompletely penetrant disease
passes it on to its offspring, will the disease still be
incompletely penetrant or will the offspring
experience symptoms?
 Given a pedigree and DNA/chromosomal
information, can we almost always attribute a disease
causing mutation to one of the above categories?
Wednesday Lecture Group Consensus
Key Points
 Major missense mutations occur when the amino acid that is changed is significantly
different than the correct amino acid.
 The changing on one amino acid to an amino acid with similar properties cause minor
missense
 Mutations that occur in an unconserved are not typically disease causing, even if the
mutation is rare.
Wednesday Lecture Group Consensus
Questions
 If there is a mutation that happens to be major missense,
but the disease is incompletely penetrant, will the person
with the mutation show symptoms?
 Is there a quicker way to identify the mutation in a gene
that's causing a particular disease?