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Genetic Variation and Gene Flow (Sickle Cell anaemia) (Inheritance patters…
Genetic Variation and Gene Flow (Sickle Cell anaemia)
The cause of genetic variation
the type of mutation
Point mutation
Lutamic acid replaced with valine
normal: CTGAG from nucleotides 17-21
affected: CTGTG
Substitution
A-->T
SNP
Single nucleotide polymorphism
when mutation occurs
Meiosis
Re-combination
prophase 1
where the mutation occurs
Occurs in HBB gene
info for Beta-globin
Sickle cell anemia
Beta-globin replaced with Hemo-globin S
aka HbS
Chromosome 11
position 15.4
in gametes
Germline mutation
process by which it occurs
Genetic technologies
PCR
Makes copies of DNA sequece
Restriction enzymes
Cuts DNA at specific place
usually 4-8 base pairs
For identifying sickle-cell
incubate
Restriction enzyme
Del I
Electrophoresis
Hemoglobin electrophoresis
Measures proteins in hemoglobin
DNA moves
Form lines
Larger DNA
moves slower
Smaller DNA
moves faster
Used for genetic counseling
Research Benefiting society
Early diagnosing
Newborn babies screened
Research ways to treat
Help patients
Live longer
Genetic counselling
only way to prevent
Germ-line mutation
Can pass onto offspring
Explain reproductive options
Effect on humans
Signs/ symptoms
Anemia
Sickle cells
hold less O2
Die quickly
Episodes of pain
Caused by
Blood cells
Block flow of blood
Swelling
Infections
Damage to spleen
prone to infections
Vision problems
Delayed growth/puberty
lack of nutrients
develop in early childhood
Jaundite
O2 deprived
Complications
Stroke.
Blindness
Organ damage
Pregnancy complications.
Reduced life span
Malaria resistance
Sickle cell anaemia
Inherited
limited healthy blood-cells
Limits oxygen
Blood cells
crescent moon
Get stuck
Small blood cells
Limit O2
Round
Treatment
No cure
Except transplants
Blood
Bone marrow
prevent pain
Inheritance patters
Mother: affected
Child: affected
Mother: Unnaffected
Father affected
Child: Carrier
"Sickle cell trait"
Father: unnaffected
Child: unaffected
Other notes
Recessive
Common among these populations
African
3/4 of cases occur
Mediterranean countries
Central Americans
Arabian Peninsula
autosomal trait
Gene Flow
The movement of individuals
and genes they carry
One population to another
Migration
sickle cell
African descennt
leads to
Genetic variation
Genetic variation
variation in population
Different allels
Natural Selection
Remove negative allels
'Survival of the fittest'
heterozygote advantage
Malaria
Allele stays in pop.
HbS