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Molecular analysis of the fragile X syndrome
Author(s) -
Hirst M. C.,
Knight S. M.,
Nakahori Y.,
Roche A.,
Davies K. E.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799612
Subject(s) - cosmid , contig , genetics , biology , fragile x syndrome , chromosomal fragile site , human genetics , mutation , computational biology , gene mapping , gene , chromosome , genome
Summary The molecular analysis of human X‐linked disease has progressed rapidly over the last few years owing to advances in power of mapping techniques. Physical DNA maps covering more than 5 million base pairs have been constructed for several chromosomal regions. Many of these regions have now also been cloned into overlapping cosmid and YAC contigs facilitating the search for disease genes. The recent identification of the mutation in the fragile X syndrome is such an example of the power of YAC technology in the characterization of human genetic disease mutations.