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What is the effect of mutation and gene flow on the gene pool of…
What is the effect of mutation and gene flow on the gene pool of populations? (Sickle cell anemia)
Genetic technologies
Electrophoresis
Uses gel (Agarose)
DNA travels through gel
gel viewed under UV light
Stained DNA as bright bands
Stained with DNA binding dye
Separetes DNA fragments
According to size
Allows for separation
Electric fields
Has wells (insertion of DNA)
DNA ladder
Can determine the size of fragments in PCR sample
DNA FRAGMENTS
Applications
Keeps track of inheritance patterns
Diagnose sickle cell anemia
PCR
Invented in 1983
goal of PCR
Small sample of DNA
Large amounts of the DNA
Can be used to be analysed
Sent for sequencing
Visualized by electrophoresis
It simplifies research (Efficient)
3 main steps
Annealing
Cools to around 55-65°C
Primers bind to complementary sequences
Extension
Reheats up to 72°C
Taq polymerase extend the primers
Synthesizing new strands of DNA
Denaturation
Heats to 96°C
To separate, or denature the DNA strands
Provides single stranded template
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Template used for Annealing
Cycle repeats 35-35 times
around 2-4 hours
Depends of the lenth of DNA
If the reaction is efficient
Few copies
Billions of copies
Targets 100-600 base pairs
Applications
DNA sequence amplified millions or billion
DNA copies can be analyzed
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Digested with restriction enzyme
Cloned into a plasmid
Practical applications
Forensics
Genetic testing
Diagnostics
Benefits of biotechnology
Nearly as old as humanity itself
Modify DNA and proteins
Shape the capabilities of
Plants
Living cells
Animals
All into something useful for humans
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Advance of recent times
Biologists
Use biotechnology to manipulate cells
With increasing control
Precision editing of DNA
Synthesizing entire genomes
biotechnology may be a crucial ally
Against climate change
Miracle cancer drugs
Applications
Human health
Present in out lives before we were even born
Immunizations
Prenatal screening
Home pregnancy test
Fertility assistance
Antibiotics
All have drastically improved life expenctancy
Tools of biotechnology
DNA sequencing
DNA
Madeup up of four building block or bases
DNA sequencing
The process of determing the order
bases in strands of DNA
Publication of the complete human genome
2003
Cost of DNA sequencing
Dropped dramatically
Simple and widespread research tool
Recombinant DNA
Researchers chooses a protein
which may be important for health or industry
Remove that protein from original context
Protein can be studied
Lets researchers reproduce it in vast quantities
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Genome editing
May be the key to solving intractable genetic diseases
Used to make lab models of dieases
Cells that store memories
Tools tat detect epidemic viruses
Diseases such as malaria could be eliminated
Causes
Gene
Hemoglobin made up of 4 peptide chains
Abnormal hemoglobin
Blood cells
Sticky
Rigid
Misshapen
Each bound to a heme group
Different hemoglobin have different combination
Hemoglobin A (Alpha)
Is made
2 Alpha globin pepide chains
2 beta globin peptide chains
Misshapen
Mutation in the Hemoglobin Beta
Sickle cell anemia
Autosomal reccesive
Mutation in both Hemoglobin beta
Needed to get sickle cell anemia
One normal hemoglobin Beta gene
One mutated hemoglobin Beta gene
Carrier of Sickle cell anemia
Does not have health problems
Unless exposed
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Decreases severity of malaria
High malaria rate
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Ancestoral
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Single point mutation
Sickle cell mutation
Non conservative missense mutation
Happens in the 6th amino acid of beta globin
Valine instead of glutamic acid
Non conservative substitution
New amino acid or valine (Hydrophobic)
Different properties to glutamic acid (Hydrophilic)
Hemoglobin tetramer
2 alpha and 2 Mutated beta globin
Called sickle hemoglobin (HBS)
Carrie oxygen perfectly well
Deoxygenated HBS chages its shape
Aggreagate with other HBS protein
Forms long polymers
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Sickled red blood cells
Gets stuck in capillaries
Infancy
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Get stuck in the cerebral vasculature
vessel damage
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Diagnosis
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Genetic variation
SNPS
Are biological markers
Locate genes
Single nucleotide polymosphisms
Shows difference in DNA
Occur almost once in every 1000 nucleotides
Study on human health
Track inheritance of disease genes within families
Definitions
Gene flow
Changes allele frequency
Mixing of new individuals in a population
Results in different alleles
Genes spread
Effect is more noticeable in smaller populations
Gene pool
Total number of genes of every individual in a population
Large gene pool indicated high genetic diversity
Genetic drift
Causes changes in allele frequency due to random chance
Causes individual to be different
May occur as a reult of natural disaster
Bottle neck effect
Few individuals in a population
Geographically isolated from the original population
Founders effect
change in allele frequency
Greater if the population is small
Meiosis
Effects
Mutations
Germline
Occur in sexual reproductive cells
gives rise to gametes
Mutations are passed to offspring
Gamete carrying mutation fuses with another
An embryo forms
Mutation is replicated in every cell
Divides and grows
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Point mutation
Single nucleotide variation
Can have a significant effect on phenotype
If they occur within the exon of a gene
An intron where they affect gene expression
Change the nucleotide sequence of DNA
Affects the expression of mutates genes
Most point substitution
Result in a base substitution
Some result in a frameshift mutation
When one nucleotide base is replace by a different base
Example: C replaced by T, G, or A
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Somatic mutation
Occurs in somatic cells
due to replication errors prior to mitosis
When a mutated cell continues to divide by mitosis
Error is replicated and passed on to cell in successive divisions
Amplifying the error within that tissue
Earlier in development the mutation occurs
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