GENETICS
MUTATIONS
Definition: a mutation is a change in the DNA/gene/nucleotide sequence or a
change in the number or size of a chromosome
NOTE: / - indicates alternatives that can be used.
EFFECTS OF MUTATIONS
a) Harmful mutations - mutated organism dies and the characteristic is not
passed to the next generation
b) Useful mutations – may be useful to organisms as it is passed on from parent
to offspring
c) Harmless mutations –have no effect on the structure and functioning of the
organism
TYPES OF MUTATIONS
There are two types of mutations: Gene mutations and Chromosomal mutations
NOTE: Do not learn about Point and Frameshift mutations from the textbook. Not
part of the syllabus
a) Gene Mutations
Definition – a gene mutation is a change in the DNA/nucleotide sequence.
Describe how a mutation on DNA may change the structure of a protein.
(Mutation on DNA is a GENE MUTATION)
The DNA code will change
leading to different mRNA/codons
which will match with different tRNA/anticodons
resulting in different amino acids being brought to the ribosome leading to a
different protein
b) Chromosomal Mutation
Definition – a chromosomal mutation is a change in the number or size of a
chromosome.
Eg Down Syndrome – change in the number of chromosomes.
HOW DO MUTATIONS CONTRIBUTE TO GENETIC VARIATION?
- Mutations introduce new alleles which result in new genotypes and therefore
new phenotypes from one generation to the next.
Gene mutations can cause genetic disorders:
Haemophilia: Absence of the protein needed for the formation of blood clots
due to a mutant gene.
Colour blindness: Absence of the proteins that make up either the red or
green cones/photoreceptors in the eye.
GENETIC ENGINEERING/MODIFICATION
Definition- The manipulation of genetic material to produce something of benefit to
humans using biotechnology/
BIOTECHNOLOGY – The use of biological processes, organisms or systems to
improve the quality of human life
How is human insulin produced using [Link] bacteria?
- A plasmid/ circular DNA is removed from the bacterial cell.
- Plasmid is cut using enzymes
- The insulin gene is removed from a human cells and inserted into the plasmid to
form the recombinant DNA.
- Plasmid is reinserted into bacterium
- since bacteria reproduce very rapidly
- many copies of the gene are produced within a short period of time to produce
insulin
Disadvantages of Genetic Engineering
- Expensive - research money could be used for other needs
- Interfering with nature/ immoral
- Potential health impacts
- Unsure of long-term effects
Advantages of Genetic Engineering
- Increases crop yield/ increases food security
- Pest and drought resistant crops can be produced
- Longer shelf life of products.
STEM CELLS
Definition – undifferentiated cells that have the potential to form any type of cell or
tissue
Sources of stem cells – embryos, umbilical cord blood, bone marrow
Stem cell therapy:
Stem cells are undifferentiated and have the potential to form any type of cell to
replace affected cells causing a disorder.
CLONING
Definition – Process by which genetically identical organisms are produced using
biotechnology.
PROCESS
- A diploid cell is removed from the organism that is to be cloned.
- An ovum is removed from the ovary of a female and the haploid nucleus is
removed.
- The nucleus of the diploid cell is removed and is now placed in the ovum. The
ovum is now diploid ie it is a zygote)
- The diploid zygote is now stimulated to divide and is now placed inside the
uterus of a female for implantation and then development.
NOTE: The clone has no genetic links to the ‘mother”
First mammal to be cloned in 1996 – Dolly the sheep
In South Africa, Futi the cow was cloned from a champion milk cow in 2003
Advantages of Cloning
- More food can be produced
- Better quality of food can be produced
- Can save endangered plants/animals
Paternity testing using Blood grouping and DNA Profiling
Blood grouping
- The blood group of a child is determined by the alleles received from both
parents
- The blood group of the mother, the child and the possible father is determined
- If the blood group of the mother and possible father cannot lead to the blood
group of the child then the man is not the father
- If the blood group of the mother and the possible father can lead to the blood
group of the child, then the man might be the father.
- This is not conclusive because many men have the same blood groups
DNA profiling
- A child receives DNA from both parents
- The DNA profiles of the mother, child and the possible father are determined
- A comparison of the DNA bands of the mother and the child is made
- The remaining DNA bands are compared to the possible father's DNA bands
- If all the remaining DNA bands in the child's profile match the possible father's
DNA bands then the possible father is the biological father
- If all the remaining DNA bands in the child's profile does not match the
possible father's DNA bands then the possible father is not the biological
father
GENETIC LINKS
- Mutations on mitochondrial DNA is used to trace female ancestry. (To be
done in greater detail when we study Human Evolution)