Term Definition

Gene A heritable factor which controls a specific characteristics

Locus The position of a gene on a chromosome

Chromosome A structure formed by DNA and proteins(Histones)

Genome Whole of the genetic information of an organism

Allele Alternative form of a gene on the same locus

Sex linkage A gene located on a sex chromosome

Outline the consequences of a base substitution mutation

- Changes codon
- Different amino acid coded for
- Change protein structure
- May cause sickle cell anaemia
- Shortened protein if mutation to a stop codon

Effect of converting a codon in the middle of a gene into a stop codon

- Protein synthesis will stop before the end of the gene
- Incomplete polypeptide produced
- Polypeptide will not function properly

Explain the consequences of altering a DNA base in the genome of an

organism
- Altering a base is a mutation
- Only has an effect if base is in a gene
- When mRNA is produced by transcription one mRNA base is different
- One codon in mRNA is different
- One amino acid is different in the polypeptide
- Polypeptide produced by translation of mRNA
- Some base changes do not change the amino acid coded for
- Structure of protein may be altered
- Usually the protein does not function as well

- Sickle cell anaemia

- GAG to GTG
- Glutamic acid to Valine
- Haemoglobin altered so sickle cell formed
- Less oxygen can be carried
Explain the cause of sickle cell anaemia
- Gene mutation
- Base substitution
- GAG to GTG sense strand of DNA
- Valine replaces glutamic acid
- Leads to a change in translation
- Adds the wrong amino acid to the polypeptide chain
- Faulty haemoglobin
- Causing abnormal red blood cells
- Which lowers the ability to transport oxygen
- Sickle cell allele is codominant
- Homozygote have sickle cell anaemia, heterozygote has the sickle trait

Outline outcomes of the human genome project

- Completed human DNA sequenced
- Identification of all human genes
- Discover protein structures
- Find evidence for evolutionary relationships
- Find mutations
- Find genes causing diseases
- Develop new drugs
- Tailor medication to individual genetic variations
- Promote international co-operation