2.0 Biological Errors
Difference Between Insertion, Deletion, And Substitution Mutations

Polymorphism vs. Mutation
Polymorphisms is just some variance in the DNA sequence (>1%). Mutations are very rare alterations in the DNA (<1% have it), while 
Difference Betwen Genotyipic and Phenotypic Basis of Disease
Description
What is PCR
DNA must be extracted from the cell and the gene of interest must be isolated.
Kinds of Error
Description
Content or "GENOTYPIC" Errors
Protein Error
Occurs in Genes Stage
Deal with content in DNA, mutations
Mutations usually cause disease
Quantity or "PHENOTYPIC" Errors
Regulation error
Occurs in Transcription
Inherited Mutations
Basic Flaws in Information - a "defective" protein is produced
Environmental Mutations
Change in Information - a "defective" protein is produced
Genetic Expression
Over/Under Regulation - too much or too little of a particular protein is being produced - variations
Genetic Mutations
Several Different Types of Base Sequence Code Changes.
- All framing errors do not necessarily destroy a protein structure - this is the beauty of a redundant coding scheme.
Single Base Insertions
Inserting a single base can completely change the framing" of sequence data
Deletion
Deleting a single base can completely change the "framing" of sequence data.
Components
Add the DNA to the following in a test tube:
DNA Polymerase
Short Oligonucleotide Primers
Four Bases ; AGCT
Cofactor MgCl2
Substitution Mutations
One base pair is switched with a wrong base pair.
EX: PTC Gene bitter taste. vs no taste
Genotypic Errors
- Technology to identif genetic polymorphisms
-Known gene sequences utilized - diagnosis not discovery
-amplification of DNA segments required for detection (PCR)
- DNA segments separaed by size (electrophoresis)
- Base pair resolution (low, medium, high) for particular application drives technology
Purpose
Description
Steps
1. Heat to separate the strands
2. Oligonucleotide Primers to locate the gene and isolate them from the rest of the DNA
3. Copy the Gene using DNA Polymerase and deoxynucleotides
Note
Primers used toidentify where the PCR should take place so the whole DNA isn't copied
PCR
To detect Genotypic Errors
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