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Molecular analysis of chromosomal rearrangements using pulsed field gel electrophoresis and somatic cell hybrids
Author(s) -
Davis Lisa M.
Publication year - 1991
Publication title -
environmental and molecular mutagenesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 87
eISSN - 1098-2280
pISSN - 0893-6692
DOI - 10.1002/em.2850180411
Subject(s) - biology , genetics , locus (genetics) , chromosome , chromosomal translocation , gene mapping , pulsed field gel electrophoresis , karyotype , chromosome engineering , somatic cell , chromosome band , chromosomal region , chromosomal rearrangement , microbiology and biotechnology , gene , genotype
Many human genetic diseases, including some cancers, are characterized by consistent chromosome abnormalities, such as deletions and translocations. Analyses of these mutations often prove crucial to the eventual cloning and characterization of the gene(s) responsible for the disease. Two methods for analyzing these chromosome abnormalities have been developed in recent years: somatic cell hybridization and pulsed field gel electrophoresis (PFGE). Somatic cell hybridization is a technique for segregating an aberrant chromosome from its normal homologue in a cell derived from an unrelated species, which is usually a rodent. Panels of such hybrids dividing a given chromosomal region into increasingly smaller units can be constructed and used specifically to map DNA probes into those units. PFGE can then be used to define precise physical distances between such an array of chromosome abnormalities. Demonstrations of these analytic techniques are presented, using as an example chromosomal abnormalities involving human chromosome band 11p13, the locus for the Wilms' tumor, anirdia, genitourinary abnormality, and mental retardation (WAGR) syndrome.