Heteroduplex polymorphism

White MB, Carvalho M, Derse D, O Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992 12 301-306. 

The most widely used genetic screening technique, PCR-RFLP detects a mutation at a specific restriction endonuclease cleavage site at the mutation locus [9], The products from other techniques such as ARMS (amplification refractory mutation system), SSCP (single-strand conformational polymorphism), HPA (heteroduplex polymorphism), and CDCE (constant denaturant capillary electrophoresis) and PCR are usually separable using polymer networks. 

Dafifonchio D, Cherif A, Borin S. Homoduplex and heteroduplex polymorphisms of the amplified ribosomal 16S-23S internal transcribed spacers describe genetic relationships in the Bacillus cereus group . Appl Environ Microbiol. 2000 66(12) 5460-68. 

DHPLC (C2, L3, U1) uses a proprietary matched ion polynucleotide chromatography column devised by Transgenomics, Inc., in combination with an organic solvent and thermal denaturation (rather than an electrophoretic gel) to resolve heteroduplexes containing a suspected polymorphism from a polymorphism-free homoduplex. Homo- and heteroduplexes are visualized through UV absorbance readings of the eluent as it leaves the column. 

DHPLC is a useful, high-throughput method to identify novel polymorphisms and to provide genotyping in a variety of situations. It uses PCR to produce a graph of homoduplex and heteroduplex absorbance as these annealed PCR product moieties elute from a column. 

Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, Cheadle JP, O Donovan MC (1999) Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45 1133-1140... 

Footz, T., Somerville, M.J., Tomaszewski, R., Elyas, B., Backhouse, C.J., Integration of combined heteroduplex/restriction fragment length polymorphism analysis on an electrophoresis microchip for the detection of hereditary haemochromatosis. Analyst 2004, 129, 25-31. 

DNA and RNA with different sequences and mutations show different electrophoretic migration behavior. There are simple electrophoretic methods, which can be used to detect mutations and minimal differences within the sequences of the PCR product. Popular methods are single-strand conformational polymorphism and heteroduplex analysis. 

Soto, D. Sukumar, S. Improved detection of mutations in the p53 Gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA. PCR Methods Applic. 1992, 2, 96. 

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