What are the effects of mutations and gene flow with in a gene pool of a population? (references to sickle cell anaemia)
Genetic technologies
Sickle Cell Anaemia
Effects
Causes
Polymerase chain reaction
Gel electrophoresis
Benefits of technology
Gene flow
DNA profiling
separation of DNA according to size
Establishes genetic relationship
Used in Forensics #
Charges molecules
Amplifies DNA
more samples
inherited
Allows for DNA to be worked with easily #
Creates sections of DNA
Done early
Before Gel electrophoresis
Determines Genotype
Biggest molecules to smallest
Used to be analysed/worked with
process
Annealing (55c)
Extension (72c)
Denaturing (95c)
helps identify pathogens
DNA sequencing
identifies species #
track species
helps conservation
easier use
Heats up
Hydrogen bonds are weakened
Big molecules are slower
small molecules are faster
Samples are pipette-ed into wells
wells made of agarose gel
Charged molecules move through gel #
Cools down
Primers applies
Heats back up
does not denature
Taq polymerase
DNA is replicated
Separates DNA from RNA and proteins
Thermal cycling
centrifuge
Germline mutation
Allows for genetic variation
The migration of alleles
changes frequency of trait in gene pool
movement of genes
Sickle cell #
Most coming in African ancestry
In areas of malaria
High malaria = high sick cell
Advantageous #
Harmful in non-malaria areas #
Beneficial in malaria areas
Abnormal amounts of Haemoglobin beta
Haemoglobin alpha is unaffected
Haemoglobin beta becomes rod shaped
stiffens red blood cells
sickle cells from
autosomal recessive
Singular nucleotide polymorphism
crescent shape
Blocks capillaries
limits oxygen
allows form bacteria
treatment
medication
Blood transfusion
Hydroxurea
only cure
pain relief
reduced red blood cells sickling
reduced functions in spleen
lowered life expectancy
Organ failure
immune system issue
pains
looked for
prevents malaria
kills parasite
Anaemic
only harmful in the western world
1 in 500 Africans have it
moved by slave trade #
moved to the western world
no immunity
Main area
Eastern Africa
other places
Asia
South America
passed on
inherited
may be a carrier
not phenotypically expressed
base substitution
codon: GAG - GTG #
located on chromosome 11
amino acid 6
amino acid: Glutamine acid - Valin acid #
2 strands
helpful when sample is too small
study of ancient species
creates billions of DNA
Genetic counselling