Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

Olsson, Christian; Waldenström, Erik; Westermark, Kerstin; Landegre, U; Syvänen, Anne-Christine

doi:10.1038/sj.ejhg.5200566

Cited by 34 publications

(25 citation statements)

References 23 publications

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“…However, pooled analysis of SNPs requires a suitable pooling strategy according to the expected frequencies of alleles to be studied [e.g. Olsson et al, 2000]. In addition, the DNA concentrations of samples used for pooling are needed to be determined accurately.…”

Section: Discussionmentioning

confidence: 99%

“…Traditionally, quantitative SNuPE analyses have been performed using gel-based methods [Singer-Sam et al, 1992] or solid-phase assays [Syvänen et al, 1993;Karttunen et al, 1996;Olsson et al, 2000], but these methods are technically demanding and/or time consuming. Recently, denaturing high-performance liquid chromatography (DHPLC) [Hoogendoorn et al, 2000;Xiao and Oefner, 2001] and matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF) [Ross et al, 2000] have been introduced to overcome these limitations.…”

Section: Introductionmentioning

confidence: 99%

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Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis

et al. 2001

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We present a novel method for accurate quantification of single nucleotide polymorphism (SNP) variants in transcripts and pooled DNAs in a one-tube reaction. Our approach is based on single- nucleotide primer extension (SNuPE) and laser-induced fluorescence capillary electrophoresis (LIF-CE), and takes advantage of distinct mobilities of SNuPE products with different nucleotides incorporated at their 3' ends. The method, called SNuPE-ONCE, was tested on two polymorphisms and five mutations that comprised the three most frequent ( approximately 70%) nucleotide changes in the human genome (C/T, A/G, and A/T). The usefulness of the method was demonstrated by analyzing nonsense-mediated mRNA instability in fibroblasts. Our data show 1) that the method provides highly reproducible relative allele frequencies (SD<0.017) with a good accuracy (e.g. for heterozygotes 0.500 +/- 0.036, P = 0.01), depending on the sequence and the proportion of the SNP variants in the sample, and 2) that relative allele frequencies as low as 1% can be detected quantitatively and unambiguously. Our assay relies on a CE instrument available in many laboratories and offers a useful method for quantitative SNP genotyping as well as for a variety of expression studies.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis

et al. 2001

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“…It has been suggested that the prevalence of WND is between 1:30 000 and 1:100 000, 1 but in the Scandinavian countries 2 it may be as low as 1:250 000.…”

Section: Introductionmentioning

confidence: 99%

Clinical presentation and mutations in Danish patients with Wilson disease

et al. 2011

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“…Препаратом выбора и золотым стандартом лечения является D-пеницилламин (купренил), образующий с медью хелат-ные соединения. В лечении болезни Вильсона -Коновало-ва используют витамины В1 и В6, так как избыток меди бло-кирует их активность [8,11,22,23]. К сожалению, в ряде слу-чаев при применении купренила возможно развитие побоч-ных эффектов, в частности волчаночноподобного синдрома.…”

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