Two-Dimensional Gene Scanning
The large size of many human genes, in combination with the frequent occurrence of many different mutations over the entire gene, severely limits direct diagnosis. Since gene diagnosis by sequencing on a large scale is not yet cost-effective, other methods such as the analysis of single-strand conformation polymorphisms (SSCP), heteroduplex analysis, and analysis by denaturing gradient gel electrophoresis (DGGE) are presently being employed (for a review, see Cotton, 1993; see also elsewhere in this volume). While these systems are very useful, they are difficult to adapt for large-scale analyses and most of them are restricted in their detection rates. Moreover, all currently available methods lack uniformity and standardization.
KeywordsCystic Fibrosis Transmembrane Conductance Regulator Detect Point Mutation Electrophoresis Instrument Melting Domain Comprehensive Mutation Analysis
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