Outline - Genes

3.1.U3 The various specific forms of a gene are alleles.

Define allele.
List two examples of genes with multiple alleles.
State a similarity between alleles of the same gene.

3.1.U5 New alleles are formed by mutation.

State the source of new alleles of a gene.
Describe a base substitution mutation.

3.1.U7 The entire base sequence of human genes was sequenced in the Human Genome Project.

Define “sequence” in relation to genes and/or genomes.
State the aim of the Human Genome Project.
Outline two outcomes of the Human Genome Project.

3.1.A1 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.

State the cause of sickle cell anemia, including the name of differences in the Hb alleles.
State the difference in amino acid sequences in transcription of normal and mutated Hb mRNA.Outline the consequences of the Hb mutation on the impacted individual.

3.1.A2 Comparison of the number of genes in humans with other species.

State the number of genes in the human genome.
Describe the relationship between the number of genes in a species and the species complexity in structure, physiology and behavior.

3.1.S1 Use of a database to determine differences in the base sequence of a gene in two species.

Explain why cytochrome oxidase 1 is often used to assess the differences in the base sequences of a gene between two species.
Use NCBI to search for COX1 sequences for different species.
Use a computer software tool to create an alignment of the gene sequences between different species.
Outline information that can be determined given gene sequence alignment data.

3.1.NOS Developments in scientific research follow improvements in technology-gene sequencers are used for the sequencing of genes.

Outline the technological improvements that have sped the DNA sequencing process.
Determine a DNA sequence from an electropherogram.