Allele-specific polymerase chain reaction

Baumann, R. E., and Henschen, A. H. (1993). Human fibrinogen polymorphic site analysis by restriction endonuclease digestion and allele-specific polymerase chain reaction amplification Identification of polymorphisms at positions A alpha 312 and B beta 448. Blood 82, 2117-2124. 

Bjorheim J, Lystad S, Lindblom A, et al. Mutation analyses of KRAS exon 1 comparing three different techniques temporal temperature gradient electrophoresis, constant denaturant capillary electrophoresis and allele specific polymerase chain reaction. MutatRes. 1998 403 103-112. 

Arakawa H, Karasawa K, Igarashi T, Suzuki S, Goto N, Maeda M. Detection of cariogenic bacteria genes by a combination of allele-specific polymerase chain reaction and a novel bioluminescent pyrophosphate assay. Anal Biochem 2004 333 296-302. 

DASH, dynamic allele-specific hybridization AS-PCR, allele-specific polymerase chain reaction AS-PE, allele-specific primer extension APEX, arrayed primer extension FP-TDI, fluorescence polarization template directed dye terminator incorporation MALDI-TOF-MS, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry OLA, oligonucleotide ligation assay RCA, ... 

Powell MA, Crawford DL, Lauerman T, Powers DA. Analysis of cryptic alleles of Fundulus heteroclitus lactate dehydrogenase by a novel allele specific polymerase chain reaction. Submitted to Mol Biol Evol... 

DNA Isolation Techniques for Allele-Specific Oligonucleotide Assay or Gel Denaturing and Polymerase Chain Reaction... 

Figure 11.6. A typical restriction length polymorphism-polymerase chain reaction (RFLP-PCR) test for the CYP2C19 2 mutation. Complementary primers that are specific for CYP2C19 (heavy arrows) are used to amplify a 312-bp fragment. The DNA is digested with a restriction enzyme Smal and electrophoresced on an agarose gel. The wild-type DNA is cut by Smal into two pieces of 109 bp and 212 bp, whereas the homozygous mutant allele is not cut. Individuals heterozygous for the two alleles show all three bands.

Polymerase chain reaction is particularly useful for genetic analysis because both amplification and primer specific isolation of gene fragments occur simultaneously. Allele-specific amplification can be employed to detect a single base-pair mutation through the use of a specially designed primer which is complementary to... 

Ozkan D, Erdem A, Kara P, Kerman K, Meric B, Hassmann J, et a . Allele-specific genotype detection of factor V leiden mutation from polymerase chain reaction amphcons based on label-free electrochemical genosensor. Anal Chem 2002 74 5931-6. 

Green ETC, Bain SC, Day PJ, Barnett AH, Charleson F, Jones AF, Walker MR. Detection of human apolipoprotein E3, E2, and E4 genotypes by an allele-specific oligonucleotide-primed polymerase chain reaction assay development and validation. Clin Chem 1991 37 1263-8. 

Weisgraber KH, Newhouse YM, Mahley RW. Apolipoprotein E genotyping using the polymerase chain reaction and allele-specific oligonucleotide probes. Biochem Biophys Res Commun 1988 157 1212-17. 

Short tandem repeat (STR) or microsatellite loci consist of DNA sequence motifs that have core repeats of two to seven base pairs. Examples include the dinucleotide 5 CACACACA 3 and the tetranucleotide 5 TTTATTTATTTA 3". Thousands of STRs are scattered throughout the genome. Because they are flanked by unique sequences, each can be specifically amplified with the polymerase chain reaction (PGR) for analysis. In populations of individuals, multiple alleles may be present based on differences in the number of repeated motifs at the locus. STRs have many characteristics that make them ideal for identity testing (1) They can be analyzed in fluorescent automated systems (2) alleles can be assigned in a definitive manner following analysis (3) STR loci are almost always transmitted in families in a Mendelian fashion (4) the loci may have 10 or more alleles, often with... 

Hruban RH, van Mansfeld AD, Offerhaus GJ, et al. K-ras oncogene activation in adenocarcinoma of the human pancreas. A study of 82 carcinomas using a combination of mutant-enriched polymerase chain reaction analysis and allele-specific oligonucleotide hybridization. Am J Pathol. 1993 143 545-554. 

The value of the RFLP technique lies in its ability to demonstrate allelic variation within specificities that do not show variation at the serological level (K13). While the RFLP technique is valuable in determining allelic variation, it is subject to certain limitations. The technique is labor intensive and time consuming, and does not lend itself to routine application. Moreover, the procedure requires large amounts of test material. The introduction of the polymerase chain reaction (PCR) (SI) successfully overcame some of these disadvantages. 

Pyrosequencing produces specific sequence data in the form of peaks on a pyrogram. It does not require the presence of a restriction enzyme site, and polymerase chain reaction (PCR) product and internal primer sites can vary in size and position. In addition, it can be used to identify tri-allelic, indel, and short-... 

Hebert,., Cayuela, J.M., Daniel, M.-T.etoi. (1994) Detection of minimal residual disease in acute myelomonocytic leukemia with abnormal eosinophils by nested polymerase chain reaction with allele specific amplification. Blood, 84, 2291-2296. 

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