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`Mutat Res. 1993 Jan;285(1):125-44.
`Current methods of mutation detection.
`Cotton RG.
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`Abstract
`Mutation detection is important in all areas of biology. Detection of unknown mutations can
`involve sequencing of kilobases of DNA, often in many patients. This has lead to the development
`of methods to screen DNA for mutations as well as methods to detect previously described
`mutations. This review discusses current methods used for such purposes with special emphasis
`on genetic diseases of humans. However, savings can be made by similar means in other areas
`of biology where repetitive or extensive sequencing for comparative purposes needs to be done.
`This review covers the methods used for detection of unknown mutations, namely the
`ribonuclease, denaturing gradient-gel electrophoresis, carbodiimide, chemical cleavage, single-
`strand conformation polymorphism, heteroduplex and sequencing methods. Once mutations have
`been defined they can be searched for repeatedly by methods referred to as diagnostic methods.
`Such methods include allele-specific oligonucleotide hybridization, allele-specific amplification,
`ligation, primer extension and the artificial introduction of restriction sites. We can now choose
`from a range of excellent methods, but the choice will usually depend on the background of the
`laboratory and/or the application in hand. Screening methods are evolving to more satisfactory
`forms, and the diagnostic methods can be automated to screen whole populations inexpensively.
`
`PMID: 7678126 [PubMed - indexed for MEDLINE]
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`Genetic analysis of the
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