Polygenic Inheritance
This study compares individuals with certain trait or disease to identify genetic risk factors
What is a Genome Wide Association Study?
This type of inheritance is when only one dominant allele is needed to express the trait
Autosomal Dominant Inheritance
This type of genetic variant involves changes in a single nucleotide at a specific position in the genome
What is a single nucleotide polymorphism?
This occurs early in transcriptional elongation, protects mRNA, and aids in export and translation
What is 5’ Cap
This is the kind of fish that Nemo is
This plot is used to view statistical results of GWAS across the genome
What is a Manhattan Plot?
This term describes a trait that is carried on the X chromosome and is more commonly expressed in males than females
What is X-Linked recessive Inheritance?
A genetic variant that increases the risk of developing but does not directly cause the phenotype is referred as this
What is a risk variant
A PCR experiment has three steps, what are they?
Denaturation, Primer annealing, Extension
This board game has the players as cars
What is Life
This metric is used to determine the effect size of a polygenic variant
What is Odds Ratio
This is when the genetic disorder is passed down only through maternal lineage
What is maternal/mitochondrial inheritance?
This type of genetic variant is present in some but not all cells of an individual and arises after fertilization
What is a somatic mutation
There are 3 main “Core” splice sequences (names and nucleotides), what are they?
What is 5’ SS, (GU), Branch Point (A), 3’SS (AG))
This is the only even prime number
What is 2
Based on the GWAS catalog for Parkinson’s, the OR for a variant and risk allele is 1.74, if prevalence of Parkinson’s is ~5% without variant, then individuals with the variant would have risk of
What is 8.75%
This phenotype occurs when the individual carries the allele for a specific trait, but does not express it
What is incomplete penetrance?
This type of allele change almost always leads to the genetic variant
What is a causative mutation?
A mechanism that balances the dose of X chromosome gene expression in females and male
What is Dosage Compensation
The fear of this number is known as triskaidekaphocia
What is 13
Let’s imagine a risk variant for Kidney Failure with OR = 1.5. If prevalence of Kidney Failure is ~5% with the variant, then individuals without variant would have risk of ______?
What is 0.333333333333
When a single genetic mutation leads to multiple phenotypic effects, this phenotype is occurring
What is pleioytopy?
List the 4 kinds of structural variants.
What are deletions, insertions, inversions, translocations
There are many ways genes can be regulated after translation, please share two.
What is Protein folding, Protein localization / trafficking, Chemical modification, Degradation, Integration into multi-protein complexes
This is the only continent without any native species of snakes
What is Antarctica