Using Bioinformatics to Understand Genetic Diseases: A Practical Guide

Abstract

This Practical Guide in the Bringing Bioinformatics into the Classroom series outlines a number of basic bioinformatics approaches that can be used to understand the molecular basis of genetic diseases. A rare variation in the insulin gene is discussed, and the impact of the variation on the gene product, and how this results in disease, is explored.

Specifically, this Guide introduces a range of commonly used bioinformatics tools and databases with which to analyse both DNA and protein sequences, and protein structures. On reading the Guide and completing the exercises, users will be able to:

• investigate the locations of genes on the human genome using a genome browser;
• compare DNA sequences using an alignment tool;
• translate a DNA sequence into its protein product;
• search a protein structure database, and visualise the 3D structure of insulin; and
• infer whether insulin is specific to humans by using protein sequence database search tools.