title: Human mutations and their detection by gene and linkage analysis, allele sharing and association methods.
abstract: It has been 20 years since DNA analysis was first used in the detection of sickle-cell anaemia. Here, techniques for detecting human mutations are reviewed. We describe direct detection of mutations using restriction enzyme analysis and polymerase chain reaction amplification to detect gene deletions, rearrangements and point mutations. Indirect detection of mutations include the use of DNA polymorphisms in linkage analysis.
authors.affiliation: Division of Genetics, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Phillips
authors.forename: R
authors.initials: R
authors.lastname: Hamid
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D017353:Gene Deletion; D015321:Gene Rearrangement / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic / Q000235:genetics; D015183:Restriction Mapping / Q000379:methods*