1. Genetics
Topic3

2. Chromosomes, genes, alleles, and mutations

3. homologous
chromosome
chromatin

4. Eukaryotic chromosomes are made of DNA and proteins
·The DNA double helix is wound around special proteins called histones

5. ·Each chromosomes is divided into a number of different sections of DNA called genes
- Gene = heritable factor that controls a specific characteristic or trait
> The different forms of a gene are called alleles (e.g. allele for blue eyes vs. allele for green eyes)
> Each allele of a gene differs from other alleles by one or a few bases only and occupies the same locus (position on the chromosome) as other alleles of the same gene

6. ·The whole of genetic information of an organism (all of its chromosomes) is referred to as its genome

7. Comparing the number of genes in organisms

8. The Human Genome Project
Began in 1990.
Thousands of scientists around the world collaborated to map the entire human genome
In 2003 the final sequence was published.
Results
23,000 protein-coding sequences in the genome
Most of the genome is considered “junk DNA”
Is not actually THE human genome but is A human genome
Since the publication scientists have sequenced many other organisms and are currently comparing their data with Homo sapiens

9. Gene mutations
·The term mutation refers to a change in the base sequence of a gene
·Usually only one or two bases are changed:
Point mutations
- Substitution = The wrong base is put in (e.g. T gets put in where C should be)
Frameshift mutations
- Insertion = extra base is added
- Deletion = base is removed

11. Substitution:

12. Mutation Consequences:
·May lead to incorrect amino acid being inserted during translation
·May result in a non-functional or malfunctional protein
·If the protein does fail to function properly the result can be either beneficial to the organism (by helping it survive better in it’s environment), benign, or harmful
Causes of Mutation:
·Most occur as an accident during transcription, but some are a result of mutagens such as chemicals and radiation

13. Sickle Cell Anemia: example of a harmful gene mutation
·Mutation is a substitution of one base pair in the gene that codes for the production of haemoglobin
- change from GAG (glutamate) to GTG (valine)
- the different properties of valine cause the haemoglobin molecule to fold up differently and changes the shape and function

14. ·The hemoglobin protein that is produced is said to look like a sickle as a result of this mutation
·shape causes it to be unable to carry oxygen efficiently
·impairs blood flow
- blood cells are less flexible
- stick in capillaries and block or slow blood
·Individuals with two copies of the recessive allele are often anemic and suffer from extreme weakness and fatigue due to the lack of oxygen

15. sickle cell anemia and malaria