Exercises: DNA Sequencing and Genome Databases

Define the terms genome and DNA sequencing.

Name two uses of publicly available genome databases.

A researcher at a university in Dublin compares the sequence of a gene from a patient with the reference sequence in a genome database:

• Reference: 5′-ATGGCCTTAAGC-3′

• Patient: 5′-ATGGCCATAAGC-3′

1. a) Identify the type of mutation and its position.

1. b) Explain how a database helps the researcher in this comparison.

1. c) State one way in which this type of mutation could have no effect on the protein.

Next-generation sequencing machines can sequence an entire human genome in a day, whereas the Human Genome Project took over a decade.

1. a) Explain why a sequenced genome alone does not tell us the function of every gene.

1. b) Discuss two benefits of the availability of sequence data in public databases to medicine.

1. c) Discuss one ethical or privacy concern arising from the sequencing of individuals' genomes.