MUTATION DETECTION AND MUTATION DATABASES

Detection of mutations in genes is vital throughout biology, however, this activity is time-consuming, expensive and requires a high degree of skill. This is unsatisfactory in a field which is increasing import ance. Around 10-12 methods are commonly used with some predominating. All have their advantages and disadvantages and none is perfect. Seque ncing is said to be the gold standard for detecting new mutations (and must be used to define it), but six or so methods have been described to make the search quicker to avoid sequencing the whole gene. These are called scanning methods. Other methods are used to detect known mu tations and referred to as diagnostic methods. These methods will be b riefly reviewed. Once mutations are described, they are usually publis hed. The mutation lists are collected for convenience, analysis or res earch. In recent years, it has been realised that these lists are vita l for research, patient care and commercial activities. These activiti es will be reviewed and the co-ordinating role of the HUGO Mutation Da tabase Initiative will be outlined.