Notes in LE003 Principles of Genetic Variation

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Published	10/08/2024	Define homozygous
Published	10/08/2024	Define heterozygous
Published	10/08/2024	Define compound heterozygous
Published	10/08/2024	Define hemizygous
Published	10/08/2024	What are the two types of inherited variants?
Published	10/08/2024	What are the two types of acquired variants?
Published	10/08/2024	Define mosaicism
Published	10/08/2024	In mosaicism {{c1::different cells}} may express different alleles
Published	10/08/2024	Define somatic mosaicism
Published	10/08/2024	Define germline mosaicism
Published	10/08/2024	Define gonosomal mosaicism
Published	10/08/2024	Typically individuals with somatic mosaicism exhibit a {{c1::milder phenotype }}
Published	10/08/2024	The severity of the disorder caused by somatic mosaicism depends on {{c1::how many and which cells are affected}}
Published	10/08/2024	A person with germline mosaicsm will {{c1::not be affected }}
Published	10/08/2024	When unaffected parents have more than one child with an autosomal dominant disorder the most likely cause is {{c1::germline mosaicism}} for the disor…
Published	10/08/2024	Germline mosaicism is most commonly seen in {{c1::autosomal dominant and X-linked}} (2) disorders
Published	10/12/2024	A germline mutation is present in the egg or sperm cell and therefore {{c1::all of the cells}} in the child
Published	10/08/2024	Define polymorphism
Published	10/08/2024	Define population
Published	10/08/2024	Define loss of function mutation
Published	10/08/2024	Define gain of function mutation
Published	10/12/2024	What is haploinsufficiency?
Published	10/08/2024	Loss of function variants commonly cause a phenotype if {{c1::both alleles}} are mutated
Published	10/08/2024	Gain of function variants usually have {{c1::dominant phenotypes }}
Published	10/08/2024	Define a dominant negative mutation
Published	10/08/2024	Define structural variant
Published	10/08/2024	Define copy number variants
Published	10/08/2024	{{c1::SNPs}} comprise the most common known disease-causing variants
Published	10/08/2024	What is a single nucleotide variant?
Published	10/08/2024	What are the conventions for frequency of common, rare and private variants?
Published	10/08/2024	How is minor allele frequency for bi-allelic loci reported?
Published	10/08/2024	How is minor allele frequency for loci with more than 2 alleles reported?
Published	10/12/2024	Short tandems repeats are also known as {{c1::microsatellites }}
Published	10/08/2024	{{c1::Short tandem repeats}} are adjacent repetition of short sequences (2-5bps) that repeat dozens of times
Published	10/08/2024	Short tandem repeats are {{c1::adjacent repetition of short sequences (2-5bps)}} that repeat dozens of times
Published	10/12/2024	Define variable number tandem repeats
Published	10/08/2024	What are small intertions and deletions (INDELs)?
Published	10/08/2024	What are copy number variants?  Give an example
Published	10/10/2024	What is segmental duplication
Published	10/08/2024	Segmental duplications can be {{c1::intrachromosomal and interchromosomal}} (2)
Published	10/08/2024	Define translocations
Published	10/08/2024	What is a balanced translocation?
Published	10/08/2024	What is an unbalanced translocation?
Published	10/08/2024	What is an inversion?
Published	10/08/2024	What is paracentric inversion?
Published	10/08/2024	What is pericentric inversion?
Published	10/08/2024	Define complex rearrangements
Published	10/12/2024	The more {{c1::conserved}} a nucleotide, the more damaging it is if it is changed
Published	10/08/2024	The more conserved a nucleotide, the more {{c1::damaging}} it is if it is changed
Published	10/08/2024	{{c1::Comparative genomics}} allows predictions as to how deleterious a genetic change might be using statistics
Published	10/08/2024	Define genetic drift
Published	10/12/2024	What is a population bottleneck?
Published	10/08/2024	What is the founder effect?
Published	10/08/2024	As a result of the founder effect, the new group may not have the same {{c1::gene frequencies}} as the parent group
Published	10/08/2024	As a result of the founder effect a relatively rare allele may become {{c1::common}}
Published	10/08/2024	As a result of the founder effect a relatively {{c1::rare allele}} may become common
Published	10/08/2024	What four populations are frequently genetically tested based upon ancestry?
Published	10/08/2024	Define penetrance
Published	10/08/2024	On the allelic spectrum of disease, what types of diseases have most frequently been studied (think in terms of the penetrance and allele frequency sc…
Published	10/08/2024	Mendelian disorders are {{c1::relatively rare}}
Published	10/08/2024	Mendelian disorders are called {{c1::deterministic}} because they are highly penetrant but rare variants
Published	10/08/2024	Define balanced polymorphism and provide an example
Published	10/08/2024	What is the common disease/ common variant hypothesis
Published	10/08/2024	{{c1::Identity by descent}} means that an individual within a closed population will share variants
Published	10/12/2024	Identity by descent means that an individual within a {{c1::closed population}} will share variants
Published	10/08/2024	Identity by descent means that an individual within a closed population will {{c1::share variants}}
Published	10/08/2024	Define admixture
Published	10/08/2024	A variant is a {{c1::permanent}} change in the DNA sequence
Published	10/08/2024	In mosaicism, the variant persists in {{c1::all clonal descendants}} of that cell
Published	10/08/2024	In autosomal recessive disorders, the disease phenotype only manifests when the individual carries {{c1::two copies of the disease allele}}
Published	10/08/2024	In autosomal dominant disorders, only {{c1::one deleterious allele}} is required for the manifestation of the disease phenotype.
Published	10/08/2024	X-linked disorders are caused by a deleterious allele in a gene on the {{c1::X chromosome}}
Published	10/08/2024	X-linked disorders are classified as dominant or recessive depending on the number of alleles needed to cause the disease phenotype {{c1::in females}}
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