Contributing Authors 
 Introductions 
1 Mutation detection now and later 2
2 Locus-specific databases 5
3 HUGO and the phases of the genome project 8
4 PCR SSCP - single-strand conformation polymorphism analysis of PCR products 14
5 SSCP and heteroduplex analysis 23
6 REF & ddF - restriction endonuclease and dideoxy fingerprinting 27
7 DGGE - denaturing gradient gel electrophoresis and related techniques 33
8 CDCE - constant denaturant capillary electrophoresis for detection and enrichment of sequence variants 38
9 LSSP-PCR - multiplex mutation detection using sequence-specific gene signatures 42
10 CCM - chemical cleavage of mismatch 50
11 FAMA - fluorescence-assisted mismatch analysis by chemical cleavage 54
12 Multiplex solid-phase fluorescent chemical cleavage 61
13 EMC - enzyme mismatch cleavage 65
14 MREC - mismatch repair enzyme cleavage 69
15 SSO - genetic typing with sequence-specific oligonucleotides 78
16 PASA - PCR amplification of specific alleles 82
17 Solid-phase minisequencing 87
18 Multiplex solid-phase fluorescent primer extension 93
19 OLA - dual-color oligonucleotide ligation assay 96
20 LCR - ligase chain reaction 101
21 UHG - heteroduplex and universal heteroduplex generator analysis 105
22 Solid-phase DNA sequencing 114
23 Manifold sequencing 119
24 Sensitive FISH using biotin tyramide-based detection 126
25 Fiber-FISH 131
26 Padlock probes for in situ detection 135
27 PTT - protein truncation test 140
28 MAMA - monoallelic mutation analysis 152
29 Oligonucleotide arrays for scanning nucleic acid sequences 158
30 Optical waveguide device for DNA hybridization analysis 164
31 Construction of manifold supports 169
32 RED - repeat expansion detection 174
33 Quantitative PCR - competitive PCR followed by QPCR detection 180
34 Capture PCR - amplification with single-sided specificity across mutation breakpoints 183
 Index 190