Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia.

Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia. Research Abstract Details 

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Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia. Abstract Text:

Ralf Weiskirchen,Carmen G Tag,Senait Mengsteab,Axel M Gressner,Catherine J E Ingram,Dallas M Swallow,

BACKGROUND: Patients presenting with symptoms of lactose intolerance are in some centres routinely tested for a single-nucleotide polymorphism C-13910T, which is located upstream of the lactase gene (LCT) and is tightly associated with genetically determined lactase persistence/non-persistence. Typing of this polymorphism enables differential diagnosis for genetic versus secondary causes of lactose intolerance. Several PCR-based methods have been established as tests for this SNP. In particular, automated genotyping assays conducted on LightCycler platforms provide a rapid, labour-saving means for routine high-throughput analysis of this variant. Recently, several novel allelic variants have been identified in non-European populations. Three of these variants occur in close proximity to C-13910T, but their effect on the genetic test is unknown. METHODS: Here we analyse whether the occurrence of C-13907G, T-13913C, and T-13915G, affect the diagnostic accuracy of C-13910T typings obtained using the LightCycler MutaREAL lactase real-time PCR kit. RESULTS: Genotyping of DNA samples harbouring respective variants or combinations thereof significantly influenced the LightCycler analysis. Some allelic combinations generated melting profiles that prevented the correct assignment of C-13910T. CONCLUSIONS: We conclude that genotyping of the C-13910T variant with the MutaREAL lactase real-time PCR kit in non-Europeans is prone to error and should be omitted.

Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia. Publishing Authors By Initials

R Weiskirchen,CG Tag,S Mengsteab,AM Gressner,CJ Ingram,DM Swallow,

For similar investigative techniques: genetic techniques: sequence analysis: sequence analysis, dna research abstracts see: investigative techniques: genetic techniques: sequence analysis: sequence analysis, dna research

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Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinica chimica acta; international journal of cli

VOLUME: 384

Page Numbers: 93-8

Journal Abbreviation: Clin. Chim. Acta

ISSN: 0009-8981

DAY: 16

MONTH: 06

YEAR: 2007

Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 1302422

Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia. Keywords Mesh Terms:

KEYWORDS: Sequence Analysis, DNA

MESH TERMS: methods

Chemical & Substance for Abstract: Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia. Information

Substance Name: Lactase

Registry Number: EC 3.2.1.108

Grant and Affiliation Information for Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia.

AFFILIATION: Institute of Clinical Chemistry and Pathobiochemistry, RWTH-University Hospital, D-52074 Aachen, Germany. rweiskirchen@ukaachen.de

Country: Netherlands

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MEDLINETA: Clin Chim Acta

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