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What is the effect of mutation and gene flow(sickle cell anaemia) on the…
What is the effect of mutation and gene flow(sickle cell anaemia) on the gene pool of populations
what is sickle cell anaemia?
genetic disease
red blood cells turn into crescent shapes
more easily destroyed
causes anaemia/other health problems
haemoglobin
oxygen carrying protein in RBC
defective
4 peptide chains
Haemooglobin A (HbA)
2 alpha and beta globin's
primary haemoglobin affected in sickle cell
Beta globin chains often misshaoing
effects
sickle cell anaemia
#
decreases seriousness of malaria
most prevalent in Africa/African descent
high frequency
red blood cell misshape: crescent
blocks capillaries
harder to trsnfer oxygen
Vaso-occlusion
splenic sequestration
susceptible to bacteria
Autosomal recessive
causes anaemia
feeling of tiredness
sickle cells more easily destroyed
lack of RBC
less oxygen
aggregates with other proteins
weakened membrane
treatments
blood tranfusion
opioids
anti-biotics
mutation
changes in genetic structure
can be passed on
changes in single cell bases DNA
deletion
Rearangment
insertion
point
one base in DNA altered
codons make specific enzymes
change type of enzyme
change type of protein produced
causes mutation
germline
can be passed on to future gen
mutated zygote
somatic
cannot be passed on
environemental factors
future cells mutated
descended from mutated cell
Causes
genetic variation
defective Haemoglobin
#
4 peptide chains
#
2 alpha
2 beta
misshapen
autosomal recessive
#
deoxygenated
#
proteinthat carries oxygen
non-conservative missense
occurs 6th amina acid
valine instead of glutamic acid
glutamic: hydrophilic
valine: hydrophobic
genes
SNP
Single Nucleotide Polymorphism
most common genetic variation
Difference in single DNA block
within regulatory region near gene
may affect gene's function
Genetic Technology/Biotechnology
Electropherosis
motion of dispersed particles
relative to fluid
under influence of spatially uniform electric field
DNA fragments separated
according to size
proteins
size and charge
gel under UV light
wells, DNA insertion
identification
Sickle cell anaemia
INheritance
PCR
Polymeraise Chain reaction
reaction cycled
many temperature changes
produce copies of target region
used to anayse
Sequencing
3 steps
Annealing
priming
cool 50 degrees
Extension
adding neucleotides
reheat 75 degrees
Denaturation
95 degrees
hydrogen bonds become weak
Benefits
Recombinant DNA
Adapt to environmental changes
DNA synthesis
can make us immune to some diseases
DNA sequening
Able to track disease in real time
Genome Editing
solve currently intractable disease
Risks
Recombinant DNA
if escape
threaten public with superbugs
DNA synthesis
controversy, ethical concerns
fabricating human genome
DNA sequencing
could create bioweapons for warefare
Genome editing
heritable genetic changes
mutations passed to fututre gens
Definitions
mitosis
anaphase
Chromotids split
telephase
connect
2 nuclei form
metaphase
alignment of chromosome
prophase
cell breaks down structures
spindle
cytokinesis
cytoplsm divides
Gene flow
movement of genes
merge population
Meisosis
cell division
sexually reproducing organisms
produce gametes
sperm or egg cells
replication
Double stranded molecules are unzipped
the RNA is inserted
Primer binds to end of strand
exonuclease remove RNA
after adding base pairs
primers gone