Notes in Intro to Genetics

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Published	09/03/2024	nucleotides of DNA are composed of {{c1::phosphate group}}, {{c1::deoxyribose (sugar)}}, and {{c1::nitrogenous base}}
Published	09/03/2024	adenine binds to {{c1::thymine}} with a {{c1::hydrogen}} bond. in the same way, guanine binds to {{c1::cytosine}}
Published	09/03/2024	during DNA replication, the two strands are separated using an enzyme called {{c1::DNA helicase}}
Published	09/03/2024	{{c1::DNA polymerase}} uses each separated strand as a template and makes a new strand with complimentary nitrogenous bases, in the {{c1::5' to 3…
Published	09/03/2024	what happens in transcription?{{c1::RNA polymerase reads template DNA and makes mRNA strand (uracil instead of thymine)}}
Published	09/03/2024	what happens in translation?{{c1::ribosomes read the mRNA in 3-nucleotide codons, and attach amino acids to form proteins}}
Published	09/03/2024	if DNA damage cannot be repaired in G0, the cell can undergo1. {{c1::senescence (stop dividing)}}2. {{c1::apoptosis}}3. {{c1::uncontrol…
Published	09/03/2024	single strand damage in DNA can be {{c1::endogenous}} or {{c1::exogenous}}
Published	09/03/2024	what is proofreading?{{c1::DNA polymerase looks back for mismatched nucleotides. if it finds one, it acts as an exonuclease, removes it, replaces it}}
Published	09/03/2024	what is mismatch repair?{{c1::MSH proteins see a mismatched nucleotide --> recruit endonucleaseendonuclease cuts that portion of strandexonuclease …
Published	09/03/2024	What is base excision repair? When is it necessary?{{c1::used when external factors like nitrites damage chemical structure of base, like in deaminati…
Published	09/03/2024	what is nucleotide excision repair? When does it occur?{{c1::used for damage from physical agents like UV radiation, which causes pyrimidine dimersend…
Published	09/03/2024	what is non-homologous end joining? when is it used?{{c1::used for jagged, double-stranded breaks caused by ionizing radiationDNa kinases bind to each…
Published	09/03/2024	what is homologous recombination?{{c1::used for double stranded breaksrecruits MRN complexes, and uses sister chromatid as a template to remake the st…
Published	09/03/2024	the highest fidelity process is {{c1::DNA replication}}
Published	09/03/2024	unlike DNA replication, {{c1::transcription and translation}} are lower fidelity processes. the LOWEST fidelity is {{c1::reverse transcripti…
Published	09/03/2024	{{c1::DNA replication}} has proofreading, while {{c1::reverse transcription}} does not
Published	09/03/2024	defects in DNA repair mechanisms can cause {{c1::cancers}}
Published	09/03/2024	list five major DNA repair pathways{{c1::base excision repair (BER)nucleotide excision repair (NER)mismatch repair (MMR)Non-homologous end joining (NH…
Published	09/03/2024	sometimes, things like methyl groups will bind to a nitrogenous base. this is called {{c1::an adduct}}
Published	09/03/2024	in {{c1::direct reversal}} enzymes remove adducts from nitrogenous bases
Published	09/03/2024	whats the difference between BER and NER?{{c1::BER deals will small changes to the nitrogenous base itself, like deamination or alkylationNER deals wi…
Published	09/03/2024	problems in NER can lead to {{c1::xeroderma pigmentosum}}, a type of cancer
Published	09/03/2024	problems with DNA helicase lead to a cancer called {{c1::Bloom's syndrome}}
Published	09/03/2024	mistranslated proteins are {{c1::tagged with ubiquitin}} and degraded
Published	09/03/2024	genomic DNA is made with {{c1::high fidelity}}, and protected with DNa repair mechanisms.mRNAs and proteins are made {{c1::quickly}}, and th…
Published	09/03/2024	why does the sickle cell mutation survive in the population?{{c1::because it offers a selective advantage to carriers.carrier's blood cells have short…
Published	09/03/2024	why does the CFTR mutation survive?{{c1::carriers have a selective advantage against secretory diarrheadysfunctional chloride channels let less fluid …
Published	09/03/2024	mutation in LRP5 (lipoprotein receptor) offers heterozygotes what selective advantage?{{c1::stronger bones}}
Published	09/03/2024	people with CCR-5 mutations have {{c1::weaker immune systems}}, but are resistant to {{c1::HIV infection}}
Published	09/03/2024	In some tissues, like {{c2::bone marrow}} genes are not fixed. They are constantly being {{c1::rearranged}}
Published	09/03/2024	gene rearrangement generates {{c1::antibody diversity}}, and is present in {{c1::B lymphocytes}}
Published	09/03/2024	What did Barbara McClintock discover?{{c1::transposones/jumping genes. DNA moves between chromosomes during development}}
Published	09/03/2024	there are {{c1::22}} pairs of autosomes, and the sex chromosomes are {{c1::X and Y}}
Published	09/03/2024	the ends of chromosomes are called {{c1::telomeres}}
Published	09/03/2024	mitochondrial DNA is {{c1::circular}}, meaning it is likely {{c2::bacterial in origin}}
Published	09/03/2024	About {{c1::200}} base-pairs of DNA and basic histones form the {{c1::nucleosome}}
Published	09/03/2024	{{c1::methylation}} of histones {{c2::inactivates}} genes
Published	09/03/2024	{{c1::acetylation}} of histones {{c2::activates}} genes
Published	09/03/2024	{{c1::phosphorylation}} of histones {{c2::activates}} genes
Published	09/03/2024	{{c1::methylation}} of promoter DNA {{c2::inactivates}} genes
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Published	09/03/2024	{{c1::adenosine deaminase deficiency}} causes {{c2::severe combined immune deficiency (SCID)}}
Published	09/03/2024	what is included in the synthetic gene used to treat SCID caused by adenosine deaminase deficiency?{{c1::LTR - enhancer - promoter - ADA cDNA - poly(A…
Published	09/03/2024	whats the issue with gene therapy treatments?{{c1::join the chromosome at any location. usually fine, but in rare cases this can cause cancers.}}
Published	09/03/2024	oncogenes {{c1::cause cancer}}
Published	09/03/2024	the first oncogene discovered was {{c1::Ras}}, short for {{c1::Rat sarcoma}}, which codes for a {{c1::G protein subunit}}
Published	09/03/2024	how does Ras cause cancer?{{c1::normal Ras has GTPase activity, so it turns itself off sometimes, and cell proliferation is regulatedsingle nucleotide…
Published	09/03/2024	the Ras mutation is (inheritance pattern){{c1::autosomal dominant}}
Published	09/03/2024	how are researchers trying to cure Ras mutation cancers?{{c1::make DICER proteins with miRNA's that are complimentary to the cancer-causing mRNAworks …
Published	09/03/2024	p53 is normally a {{c1::tumor suppressor}} that acts as a {{c1::checkpoint, stopping DNA replication until DNA is repaired}}
Published	09/03/2024	{{c1::50}}% of all human tumors contain mutations in {{c1::p53}}
Published	09/03/2024	southern blot analyzes {{c1::DNA}}
Published	09/03/2024	northern blot analyzes {{c1::RNA}}
Published	09/03/2024	western blot analyzes {{c1::proteins}}
Published	09/03/2024	ELISA is {{c1::enzyme-linked immunosorbent assay}}, which is used to {{c1::bulk screen for proteins in a solution}}
Published	09/03/2024	in flow cytometry, cells are distinguished by {{c1::cell surface markers}}
Published	09/03/2024	PCR is {{c1::polymerase chain reaction}} and is used to {{c1::amplify DNA}}
Published	09/03/2024	finger-printing analyzes {{c1::DNA}} for {{c1::differences between individuals}}
Published	09/03/2024	in a {{c1::microarray}}, multiple samples are analyzed for hybridization
Published	09/03/2024	In {{c1::karyotyping}}, {{c1::metaphase}} chromosomes are observed and checked for abnormalities
Published	09/03/2024	FISH is {{c1::fluoresence in-situ hybridization}}, and is used to {{c1::detect and/or locate a specific DNA sequence on a chromosome}}
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Published	09/03/2024	After each amplification cycle of PCR, the # of DNA molecules {{c1::doubles}}
Published	09/03/2024	Steps of PCR1. {{c1::start with double stranded DNA}}2. {{c2::heat it to make it single stranded}}3. {{c3::let polymerase attach to primers and add co…
Published	09/03/2024	how is PCR used in CFTR diagnosis?{{c1::CFTR caused by 3-nucleotide deletion of Pheamplify enough DNA and then run gel electrophoresisCFTR positive wi…
Published	09/03/2024	In addition to buffer ions, PCR needs all of the following except:a. DNA templateb. Four deoxyribonecleoside triphosphatesc. Four ribonucleoside triph…
Published	09/03/2024	DNA fingerprinting is useful in solving crimes and also establishing paternity. In DNA fingerprinting, analysis of what regions of DNA is most useful?
Published	09/03/2024	even if the DNA itself is pristine and unmutated, varying {{c1::epigenetics}} can cause diseases in humans
Published	09/03/2024	epeigenetics is required for normal function of cell and development. what are three processes that use it?{{c1::evolutiontissue differentiationeffect…
Published	09/03/2024	what are the three main pathways by which epigenetics occurs?{{c1::histone modificationRNA interferenceDNA methylation}}
Published	09/03/2024	{{c1::increased acetylation}} of histones --> {{c2::increased trasncriptional activity}}
Published	09/03/2024	{{decreased acetylation}} of histones --> {{c2::repress gene expression}}
Published	09/03/2024	{{c1::methylation}} of histones --> {{c2::activate or inhibit transcription, depending on where it occurs}}
Published	09/03/2024	other modifications of histones, aside from acetylation and methylation, include {{c1::ubiquitinylation, sumoylation, and phosphorylation}}
Published	09/03/2024	in {{c1::RNA interference}}, small {{c2::miRNAs}} can {{c2::negatively}} control the target gene's expression {{c2::post-transcriptiona…
Published	09/03/2024	MicroRNAs interact with mRNA through {{c1::sequence specific interactions}} with key {{c1::areas of sequence homology}} and {{c2::inhibit tr…
Published	09/03/2024	DNA methylation is the inhibitory {{c1::covalent}} attachment of a methyl group to cytosine residues in {{c1:CpG dinucleotide sequences}} that are cal…
Published	09/03/2024	In DNA methylation, DNA islands are often in the {{c1::promoter or enhancer}} regions of genes and methylation of these sites usually {{c1::inhibits g…
Published	09/03/2024	{{c1::Genomic imprinting}} is an {{c2::epigenetic}} process that {{c2::silences genes through DNA methylation}}
Published	09/03/2024	In imprinting, the repressed allele is {{c1::methylated}}, while the active allele is {{c1::unmethylated}}
Published	09/03/2024	In {{c1::Prader-Willi}}, the {{c2::paternal}} copy is {{c2::promoter methylated}} and therefore {{c2::not expressed}}, resulting in problems with…
Published	09/03/2024	In Angelman, the {{c2::maternal}} copy is {{c2::promoter methylated}} and therefore {{c2::not expressed}}, resulting in a {{c2::neurological, learning…
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