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DESCRIBES NEURO GENETIC DISEASES
Typology: Papers
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Overview: ● Goal: Amplify small quantities of DNA ● Clinical relevance in modern medicine and clinical genetics: Diagnostic tool (ex. HIV, herpes encephalitis).
● Denaturation: Heat DNA to 95°C to separate strands ● Annealing: Cool sample to 55°C
Overview: ● Goal: Gene editing (deletions, mutations, or insertions) ● Use: Genetic manipulation, cancer research, viral research, genome study Process: ● Cas9: Bacterial endonuclease used to locate and cleave host DNA
● Step 1: Cas9 locates a region of DNA complementary to its guide RNA ● Step 2: Cas9 makes single or double stranded breaks at target site ● Step 3A: Non-homologous end joining imperfectly repairs break → Mutation ● Step 3B: Donor DNA used to fill the gap via homologous recombination → Insertion
Overview: ● Goal: Identify the amount of protein, DNA, or RNA present in a sample ● Clinical relevance in modern medicine and clinical genetics : Identifying size, identity, or quantity of DNA, RNA, or protein in a sample.
● Step 1: Heat and/or denature sample ● Step 2: Pipette sample into separate wells in agarose gel ● Step 3: Place gel in solution, run electric current through solution - DNA and RNA are negatively charged → Migrate to (+) electrode - Proteins coated with (-) charged substance → Migrate to (+) electrode ● Step 4: Transfer gel to filter paper ● Step 5: Incubate filter paper with Ab or radioactive probe which will bind to DNA/RNA/protein ● Step 6: Develop film of your filter paper, observe how far each sample migrated Southern, Western, Northern Blot Specific samples detected and peculiar technique: ● Southern Blot: Sample enzymatically cleaved prior to electrophoresis - Radiolabelled DNA probe marks sample for development - Detection of genes, specific nucleotide sequences ● Western Blot: Protein sample, antibody binds to protein for development. Detection of protein expression.
Detection of level of gene expression, mRNA South western Blot: Detects DNA binding proteins.
● Goal: Fluorescent DNA probe binds specific genetic regions of interest ● Clinical relevance in modern medicine and clinical genetics : Detect microdeletion, translocation, duplication - Useful when one region of DNA is in question ● Process: Karyotype affixed to slide → DNA/RNA probe added - Fluorescence detected