Literature DB >> 10834405

Unravelling genetic data by arrayed primer extension.

N Tõnisson1, A Kurg, K Kaasik, E Lõhmussaar, A Metspalu.   

Abstract

We have developed a method for arrayed primer extension (APEX) on an oligonucleotide microchip together with the 4-color fluoresence imaging equipment and supporting software, that allows analysis of the DNA sequence and changes in it. Mutation analysis of BRCA1 gene and single nucleotide polymorphism (SNP) chip for genotyping were used as a model system. Chip surface chemistry, template preparation and APEX reaction conditions were optimised and the assay is ready to be implemented in variety of DNA analysis from SNP testing to DNA resequencing.

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Year:  2000        PMID： 10834405     DOI： 10.1515/CCLM.2000.025

Source DB:  PubMed          Journal:  Clin Chem Lab Med        ISSN： 1434-6621            Impact factor:   3.694


  11 in total

1.  Single tube genotyping of sickle cell anaemia using PCR-based SNP analysis.

Authors:  C M Waterfall; B D Cobb
Journal:  Nucleic Acids Res       Date:  2001-12-01       Impact factor: 16.971

2.  Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

Authors:  Galuh D N Astuti; Mette Bertelsen; Markus N Preising; Muhammad Ajmal; Birgit Lorenz; Sultana M H Faradz; Raheel Qamar; Rob W J Collin; Thomas Rosenberg; Frans P M Cremers
Journal:  Eur J Hum Genet       Date:  2015-12-02       Impact factor: 4.246

Review 3.  DNA microarrays--techniques and applications in microbial systems.

Authors:  T Majtán; G Bukovská; J Timko
Journal:  Folia Microbiol (Praha)       Date:  2004       Impact factor: 2.099

4.  Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.

Authors:  Iris Schrijver; Maigi Külm; Phyllis I Gardner; Eugene P Pergament; Morris B Fiddler
Journal:  J Mol Diagn       Date:  2007-04       Impact factor: 5.568

5.  Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

Authors:  Iris Schrijver; Eneli Oitmaa; Andres Metspalu; Phyllis Gardner
Journal:  J Mol Diagn       Date:  2005-08       Impact factor: 5.568

6.  Simultaneous detection of precore/basal core promoter mutations in hepatitis B virus using arrayed primer extension.

Authors:  Wai-Yan Ha; Chi-Chiu Lau; Patrick Y K Yue; Kaman K M Hung; Kelvin Chan; Siu-Hon Chui; Albert K K Chui; Wing-Cheong Yam; Ricky N S Wong
Journal:  Mol Diagn Ther       Date:  2006       Impact factor: 4.074

7.  Identification and minisequencing-based discrimination of SHV beta-lactamases in nosocomial infection-associated Klebsiella pneumoniae in Brisbane, Australia.

Authors:  Christopher Howard; Angela van Daal; Gregory Kelly; Jacqueline Schooneveldt; Graeme Nimmo; Philip M Giffard
Journal:  Antimicrob Agents Chemother       Date:  2002-03       Impact factor: 5.191

8.  Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Authors:  Laurence H M Pierrache; Adva Kimchi; Rinki Ratnapriya; Lisa Roberts; Galuh D N Astuti; Alexey Obolensky; Avigail Beryozkin; Martha J H Tjon-Fo-Sang; Jose Schuil; Caroline C W Klaver; Ernie M H F Bongers; Lonneke Haer-Wigman; Nicoline Schalij; Martijn H Breuning; Gratia M Fischer; Eyal Banin; Raj S Ramesar; Anand Swaroop; L Ingeborgh van den Born; Dror Sharon; Frans P M Cremers
Journal:  Ophthalmology       Date:  2017-04-13       Impact factor: 12.079

9.  Development of a genotyping microarray for Usher syndrome.

Authors:  Frans P M Cremers; William J Kimberling; Maigi Külm; Arjan P de Brouwer; Erwin van Wijk; Heleen te Brinke; Cor W R J Cremers; Lies H Hoefsloot; Sandro Banfi; Francesca Simonelli; Johannes C Fleischhauer; Wolfgang Berger; Phil M Kelley; Elene Haralambous; Maria Bitner-Glindzicz; Andrew R Webster; Zubin Saihan; Elfride De Baere; Bart P Leroy; Giuliana Silvestri; Gareth J McKay; Robert K Koenekoop; Jose M Millan; Thomas Rosenberg; Tarja Joensuu; Eeva-Marja Sankila; Dominique Weil; Mike D Weston; Bernd Wissinger; Hannie Kremer
Journal:  J Med Genet       Date:  2006-09-08       Impact factor: 6.318

10.  Evolutionary conservation of metabolism explains howDrosophila nutrigenomics can help us understand human nutrigenomics.

Authors:  Douglas M Ruden; Xiangyi Lu
Journal:  Genes Nutr       Date:  2006-06       Impact factor: 4.423
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