Notes in a. DNA Sequence Variation

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Status	Last Update	Fields
Published	07/28/2024	A modern DNA chip contains {{c1::1 million::amount}} SNPs
Published	07/28/2024	Continued modern use of Sanger sequencing?
Published	07/28/2024	Where are variations in DNA sequence more common?
Published	07/28/2024	Why are variations in DNA sequence more common in junk DNA?
Published	07/28/2024	Human genome = {{c1::6::amount}}x10{{c1::9::order of magnitude}} bp
Published	07/28/2024	Within genetics, what does a polymorphism refer to?
Published	07/28/2024	A(n) {{c1::indel::term}} is a {{c2::deletion::modification}} or {{c2::insertion::modification}} of 1+ bps
Published	07/28/2024	Four types of DNA sequence variation:Single Sequence Repeat {{c1::microsatellite ~1-5 bp core unit}} Single nucleotide polymorphism ({{c2::si…
Published	07/28/2024	An individual has about {{c1::70::amount}} new mutations
Published	07/28/2024	balanced polymorphism = {{c1::disease::component}} + {{c1::polymorphism::component}}
Published	07/28/2024	A balanced polymorphism is a {{c2::common::common/rare}} gene variant that causes {{c1::disease::effect}}, but confers highe…
Published	07/28/2024	e.g. of disease-causing mutation with frequency ≥ 1%
Published	07/28/2024	Factor V Leiden has frequency of {{c1::2.5::amount}}%
Published	07/28/2024	Use of SSR in forensics?
Published	07/28/2024	What is the most common form of rearrangement?
Published	07/28/2024	How can an individual possess variable amounts of allelic copies of a gene?
Published	07/28/2024	Exons make up {{c1::1::amount}} to {{c1::2::amount}}% of genome
Published	07/28/2024	What is the most common SNP/SNV?
Published	07/28/2024	Most SNPs that occur in the middle of DNA are {{c1::silent::expressed/silent}}
Published	07/28/2024	Average copy number variation is {{c1::250 Kbp::amount}}
Published	07/28/2024	CNVs affect about {{c1::5-10::amount}}% of the human genome
Published	07/28/2024	Each individual has about {{c1::10-100::amount}} CNVs
Published	07/28/2024	Four types of CNVs:{{c1::Deletion::type}}{{c2::Duplication::type}}{{c1::Segmental duplication::type}}{{c2::Inversion::type}}
Published	07/28/2024	A silent sequence change is called a(n) {{c1::synonymous::name}} SNP
Published	07/28/2024	Why don't silent sequence changes affect amino acid encoded?
Published	07/28/2024	Why might silent sequence change still affect gene expression?
Published	07/28/2024	A {{c2::missense}} sequence change is also called a(n) {{c1::nonynonymous}} SNP
Published	07/28/2024	A nonsense sequence change is also a {{c1::nonynonymous SNP}} that changes an amino acid codon to a(n) {{c1::stop}} codon
Published	07/28/2024	Effect of nonsense sequence change introducing a stop codon?
Published	07/28/2024	A {{c1::frameshift::name}} mutation results from a(n) {{c2::insertion}} or {{c2::deletion}} of bps, usually leading to a premature {{c1…
Published	07/28/2024	Effect of a splice-site mutation?
Published	07/28/2024	Example of two regulatory regions of a gene
Published	07/28/2024	Potentially pathogenic Copy Number Variations detected in ~{{c1::10::amount}}-{{c1::20::amount}}% of unexplained {{c2::intellectual disability}} …
Published	07/28/2024	What does intensity refer to on a CNV chip?
Published	07/28/2024	{{c1::DNA sequencing::method}} is the most commonly used test to detect mutations
Published	07/28/2024	Types of "obvious" disruptions of a gene that are observed by DNA sequencing:large {{c1::deletion::modification}} or {{c1::rearrangement::mo…
Published	07/28/2024	What diseases provide evidence that gene variant is pathogenic because the gene variant is only present in child with disease but lack of presenc…
Published	07/28/2024	Two types of functional analysis of the effect of an SNP by analyzing its gene product:expression of {{c1::recombinant::type}} protein and testing its…
Published	07/28/2024	Use of expression of recombinant protein in analyzing the function of a gene product?
Published	07/28/2024	Use of transgenic mice in analyzing the function of a gene product?
Published	07/28/2024	VUS = {{c1::variant::name}} of {{c2::unknown::name}} {{c1::significance::name}}
Published	07/28/2024	In genetic counseling, what does "actionable" refer to?
Published	07/28/2024	The human genome varies from individual-to-individual at a frequency of about {{c1::0.1%}}
Published	07/28/2024	A common genetic variation within a population with a minor allele frequency >/= 1% is referred to as a {{c1::genetic polymorphism}}
Published	07/28/2024	An uncommon, non "normal" genetic variation observed in <1% of alleles within a population is referred to as a {{c1::mutation}}
Published	07/28/2024	SSR stands for {{c1::single sequence repeat}}
Published	07/28/2024	STR stands for {{c1::single tandem repeat}}
Published	07/28/2024	SNP stands for {{c1::single nucleotide polymorphism}}
Published	07/28/2024	SNV stands for {{c1::single nucleotide varient}}
Published	07/28/2024	CNV stands for {{c1::copy number variant}}
Published	07/28/2024	What are SSR/STR's?
Published	07/28/2024	What are SNP/SNV's?
Published	07/28/2024	Most SNP/SNVs are silent/expressed?
Published	07/28/2024	What 4 types of chromosomal changes are observed in CNVs?
Published	07/28/2024	{{c1::Silent mutations}} are also referred to as {{c2::Synonymous SNPs}}
Published	07/28/2024	A change that does not alter the encoded amino acid is called a {{c1::silent}} mutation
Published	07/28/2024	{{c1::Missense and Nonsense mutations}} are also referred to as {{c2::Non-Synonymous SNPs}}
Published	07/28/2024	A mutation that changes the amino acid coded for by a single codon is called {{c1::missense}} mutation
Published	07/28/2024	A mutation that changes an amino acid codon to a stop codon is referred to as a {{c1::nonsense}} mutation
Published	07/28/2024	A mutation resulting from the insertion or deletion of nucleotide(s) causing a change in reading frame is referred to as a {{c1::frameshift mutat…
Published	07/28/2024	A mutation that causes an altered RNA sequence is called a {{c1::splice-site}} mutation
Published	07/28/2024	{{c1::DNA Sequencing}} is now the most commonly used method for diagnostic genetics
Published	07/28/2024	CGH or Comparative Genomic Hybridization is used to survey for {{c1::large deletions}}, {{c1::insertions}}, and {{c1::rearrangements}}
Published	07/28/2024	Human to Human DNA variation is about {{c1::0.1%}}
Published	07/28/2024	Variant allele refers to a DNA mutation with a frequency of {{c1::<.01%}} in the human population
Published	07/28/2024	When mutations are not obvious, how do you distinguish a disease causing mutation from a silent sequence variation
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