2. The study of variation and inheritance among
organisms.
Variation due to different genes or alleles among
individuals.
Inheritance is the passing on of these genes or
alleles to offspring.
New developments in technology has led to Gene
Sequencing (finding the base sequence for genes)
The biggest example of this is the Human
Genome project (which sequenced the entire
human genome)
3. Chromosomes = a single piece of coiled DNA and
proteins (in eukaryotes but not prokaryotes).
Humans have 23 pairs of chromosomes.
Gene = a heritable factor that produces a specific
protein which affects a specific characteristic.
Found in DNA.
Gene locus: the specific position of a gene on a
chromosome
Genome = the totality of the genes of an
organism.
Allele = one specific form of a gene.
◦ Dominant allele = always expressed
◦ Recessive allele = expressed if no dominant allele
present.
◦ Codominant alleles = both expressed
4. What’s a mutation?
Recall that DNA codes for protein formation.
If bases are altered in DNA then transcription
is affected then translation.
A different amino acid may be coded for.
A different polypeptide/protein may be
formed.
Most mutations are deleterious; few beneficial
What causes mutations?
5. Caused by A/T base substitution in gene
coding for hemoglobin. Part of the gene is
GTG rather than GAG.
The altered Gene is then transcribed.
One of the proteins in the hemoglobin is
changed.
Creates sickle-shape of red blood cells.
Such cells are less efficient at transporting
gases.
However, this gives partial resistance to what
disease?
6. Make a powerpoint
explaining
-what sickle cell
anaemia is
-the mutation that
causes it
The effect on
haemoglobin
The effect on red
blood cells
The effect on Malaria
resistance:
7. Homozygous: Each of a pair of chromosomes
have same alleles.
Heterozygous: Each… have different alleles.
Genotype: Actual genetic make-up of organism.
Phenotype: The characteristics of organism due
to its genotype.
Carrier: Organism that carries an allele but
doesn’t show it.
Test cross: a mating of organisms to see if an
organism has an allele (carrier) or does not.
Locus: location on chromosome of a gene/allele
Gene mutation : A change in the structure of a
gene; thus gene creates altered protein (or not).