3.

1 Genes

Genes

What is a gene?
A genes is a heritable factor that consists of a length of DNA and influences specific
characteristic

- Genes consist much shorter length of DNA than chromosome

- Each chromosome contain many genes

Comparing numbers of genes

Comparison of the number of genes in humans with other species.

Group Name of species Brief description # of genes

Prokaryotes E. coli Gut bacterium 1,700

Protoctista T. vaginalis Unicellular parasite 60,000

Fungi S. cerevisiae Yeast - unicellular fungus 6,000

Plants O. sativa Rice 6,000

Animals H. sapiens 23,000

Where are genes located?

A gene occupies a specific position on one type of chromosome.

- # of groups of linked genes = # of chromosomes (eg. humans: 23 linked genes, 23

chromosomes)

- Specific position of a gene on a chromosome - locus

What are alleles?

The various specific forms of a gene are alleles.

- Allele - alternate forms of the same gene

- Can be 2 or + alleles per gene and they occupy the same position on 1 type of chromo

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- Can only be 1 allele of a particular gene at a specific locus

Differences between alleles

Alleles differ from each other by one or a few bases only.

- Single nucleotide polymorphism (SNP): a position in a gene that has the option of being filled
by more than 1 nitrogenous base

- Several SNPs can be in one gene, but the alleles still differ by only a few bases

Comparing genes
Use of a database to determine differences in the base sequence of a gene in two species.

- Sequencing of genes allows gene sequences to be compared - can be used to determine

revolutionary relationships

Mutation
New alleles are formed by mutation.

- Mutation: random change

- Most significant type of mutation: base substitution
- Unlikely beneficial; mostly neutral/detrimental; some are lethal (cause death of cell in which
mutation occurs)

- Mutations in body cells eliminated when the individual dies; mutation in cells that developed
into gametes can pass on to offspring —> genetic disease

Sickle cell anemia

The causes of sickle cell anemia, including a base substitution mutation, a change to the base
sequence of mRNA transcribed from it and a change to the sequence of a polypeptide in
hemoglobin.

- Mutation of gene that codes for the alpha-globin polypeptide in hemoglobin

- Base substitution on the 6th codon: GAG(Hba) —> GTG(HbS)

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- mRNA: GAG —> GUG

- Amino acid: glutamic acid —> valine
- The change causes the hemoglobin groups to stick together in red blood cells & induce
formation of a rigid sickle cell shape in low O2 concentrations

- Hemoglobin & plasma membrane damaged —> shorten red blood cell life to 4 days —> body
can’t keep up replacing cells, anemia develops

What is a genome?
The genome is the whole of the genetic info of an organism.

- A living organism’s genome = the entire base sequence of each of its DNA molecules
- Humans genome: 46 molecules (chromo) & DNA molecule in the mitochondria
- Plant genome: chromo molecules; DNA molecule in mitochondria & chloroplast
- Prokaryote genome: DNA in circular chromo & any present plasmid

The Human Genome Project

The entire base sequence of human genes was sequenced in the Human Genome Project.

- aim: find base sequence of entire human genome

- Human share majority of base sequence - give genetic unity
- Nucleotide polymorphisms give human diversity

Techniques used for genome sequencing

Developments in scientific research follow improvements in technology: gene sequencers,
essentially lasers and optical detectors, are used for the sequencing of genes.

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