Open AccessHuman mutations and their detection by gene and linkage analysis, allele sharing and association methods
Author(s) -
John A. Phillips,
Rizwan Hamid
Publication year - 1999
Publication title -
eastern mediterranean health journal/eastern mediterranean health journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.442
H-Index - 47
eISSN - 1687-1634
pISSN - 1020-3397
DOI - 10.26719/1999.5.6.1140
Subject(s) - genetics , allele , gene , linkage (software) , allele frequency , genetic association , genetic linkage , biology , computational biology , genotype , single nucleotide polymorphism
Ithas 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