2002
DOI: 10.1093/nar/gnf060
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Integration of DNA ligation and rolling circle amplification for the homogeneous, end-point detection of single nucleotide polymorphisms

Abstract: Association studies using common sequence variants or single nucleotide polymorphisms (SNPs) may provide a powerful approach to dissect the genetic inheritance of common complex traits. Such studies necessitate the development of cost-effective, high throughput technologies for scoring SNPs. The method described in this paper for the co-detection of both alleles of a SNP in a single homogeneous reaction combines the specificity of a high fidelity DNA ligation step with the power of rolling circle amplification… Show more

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Cited by 84 publications
(36 citation statements)
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“…When they hybridize, head to tail, to the target, the 5'-and 3'-terminals of the probe are juxtaposed, forming a closed, circular molecule following incubation with a DNA ligase [17]. The ability of padlock probes to accurately identify SNPs has been demonstrated [18][19][20], and the intensity of the signal generated by the circularized probe can be increased, exponentially, by hyperbranched rolling circle amplification (HRCA) (Fig. 1) [21].…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…When they hybridize, head to tail, to the target, the 5'-and 3'-terminals of the probe are juxtaposed, forming a closed, circular molecule following incubation with a DNA ligase [17]. The ability of padlock probes to accurately identify SNPs has been demonstrated [18][19][20], and the intensity of the signal generated by the circularized probe can be increased, exponentially, by hyperbranched rolling circle amplification (HRCA) (Fig. 1) [21].…”
Section: Introductionmentioning
confidence: 99%
“…1) [21]. This technology has been used for SNP genotyping in human populations [18][19][20], as well as for the detection of human pathogenic viruses [22] and bacteria [23]. In this study, we investigate the use of padlock probes used in combination with HRCA and real-time PCR for highthroughput rapid identification and differentiation of isolates of the Cryptococcus species complex.…”
Section: Introductionmentioning
confidence: 99%
“…[52][53][54][55] Although these methods are not yet available commercially, they have potentials to be developed into homogeneous and isothermal technologies that can overcome the barrier of PCR amplification.…”
Section: Thementioning
confidence: 99%
“…For example, there are many reports for SBE with MS detection, 12,16,17,20,76,95 SBE with microarray 23 and microbeads [96][97][98][99] detection, the FP-TDI, [100][101][102] the TaqMan assay, 64,88,103 pyrosequencing, [104][105][106] the Invader assay 46,107-109 and ligation-based methods. 53,84,110,111 The issue becomes more salient when users intend to try out newly developed but not widely used methods. In that context, parallel and systematic tests with established methods should be performed to estimate the accuracy and sensitivity.…”
Section: Criteria For Selection Of Technologiesmentioning
confidence: 99%
“…Over the past twenty years, many different methods have been developed for SNP genotyping by PCR, including hybridization 16 , allele-specific PCR 17 , primer extension 18 , oligonucleotide ligation 19 , direct DNA sequencing 20 and endonuclease cleavage after amplification of the subjected genomic region by PCR [21][22] . Recent technologies for SNP genotyping (Taq Man method [23][24] , Invader method [25][26] , MALDI-TOF method 27 , GeneChips 28 ) have the potential for high-throughput, but they require the purchase of expensive equipment.…”
Section: Introductionmentioning
confidence: 99%