Notes in Lecture Genetic Testing

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Published	08/28/2024	There are many types of tissue used for genetic testing:{{c1::WBCSaliva and buccalSkinBone marrowFetaltumors}}
Published	08/28/2024	Affinity purification is the use of {{c1::magnets to seperate pure DNA from WBC/blood/digested tissue products }}
Published	08/28/2024	Restriction enzymes cut {{c1::double stranded DNA based on pattern of bases found}}They cut at {{c1::palindromic nucletoide sequence}} sites
Published	08/28/2024	Hybridization AssaysSouthern Blotting analyzes and detects {{c1::specific DNA sequences in a DNA sample via usage of restriction enzymes, agarose gel,…
Published	08/28/2024	Hybridization AssaysRFLP stands for {{c1::restriction fragment length polymorphism}}RFLP detect via probes with labeled DNA for select gene seque…
Published	08/28/2024	Fl ourescencein-situ hybridization (FISH) is a technique where {{c1::singled stranded DNA or RNA (called a probe) can form complementary base pairs wi…
Published	08/28/2024	Flow Chart for Amplication Assays:{{c1::}}
Published	08/28/2024	PCR stands for {{c1::polymerase chain reaction}} and the steps in it are:{{c1::1: Heating of DNA to seperate2: Primers bind to template strands3:…
Published	08/28/2024	ddNTPs are different from dNTPs because {{c2::when they are recruited by DNA polymerase, the sequence is halted due to lack of a OH group at 3' Carbon…
Published	08/28/2024	In Sanger-Sequencing, fragments of {{c1::DNA}} sequences in various lengths are madeThese fragments migrate, with the smaller fragments migrating {{c1…
Published	08/28/2024	aCGH stands for {{c1::comparative genome hybridization}} and analyzes the entire genome via {{c1::hybridizing two samples to the microarray}…
Published	08/28/2024	There are 4 types of molecular genetic testing:{{c1::1: single gene analysis2: multi-gene panels3: whole exome sequencing (WES)4: whole genome analysi…
Published	08/28/2024	Single gene analysis sequences the entire gene, and {{c1::deletion/duplication}} of single geneSite specific genetic analysis (Sanger sequencing) can …
Published	08/28/2024	Multi-gene panel testing involves testing for pathogenic variants in multiple genes, and has an increased likelihood of identifying a {{c1::varia…
Published	08/28/2024	Whole Exome sequencing (WES) analyzes {{c1::only the exons in a genome}}. Triotesting, which is {{c1::when child and parents get tested}}, i…
Published	08/28/2024	Limitations of the WGS/WES include:{{c1::Sensitivty of anlysis is not 100%Limited ability to detect gene variation, large deletions, insertions, mutat…
Published	08/28/2024	Applications of molecular testing include :(3 types of testing){{c1::diagnostic testingpredictive testingcarrier testing}}
Published	08/28/2024	SNPs are {{c1::single nucleotide polymorphisms }} and have only {{c2::two}} alleles at a location
Published	08/28/2024	{{c1::rSNP, iSNP, cSNP}} are types of SNP that may cause a phenotypical change
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