在常见的乳糖酶基因-13910T/C变异附近出现的一种新型近端-13914G>A碱基置换，在用MutaREAL乳糖酶检测进行测试时会导致非典型的LightCycler熔解曲线。 - Suppr

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超能文献

A novel proximal -13914G>A base replacement in the vicinity of the common-13910T/C lactase gene variation results in an atypical LightCycler melting curve in testing with the MutaREAL Lactase test.

作者信息

Tag Carmen G, Schifflers Marie-Claire, Mohnen Monika, Gressner Axel M, Weiskirchen Ralf

出版信息

Clin Chem. 2007 Jan;53(1):146-8. doi: 10.1373/clinchem.2006.077529.

DOI:10.1373/clinchem.2006.077529

PMID:17202502

Abstract

摘要

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A novel proximal -13914G>A base replacement in the vicinity of the common-13910T/C lactase gene variation results in an atypical LightCycler melting curve in testing with the MutaREAL Lactase test.

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引用本文的文献

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The -14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity.

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A novel proximal -13914G>A base replacement in the vicinity of the common-13910T/C lactase gene variation results in an atypical LightCycler melting curve in testing with the MutaREAL Lactase test.

作者信息

Tag Carmen G, Schifflers Marie-Claire, Mohnen Monika, Gressner Axel M, Weiskirchen Ralf

出版信息

Clin Chem. 2007 Jan;53(1):146-8. doi: 10.1373/clinchem.2006.077529.

DOI:10.1373/clinchem.2006.077529

PMID:17202502

Abstract

摘要

相似文献

A novel proximal -13914G>A base replacement in the vicinity of the common-13910T/C lactase gene variation results in an atypical LightCycler melting curve in testing with the MutaREAL Lactase test.

Clin Chem. 2007 Jan;53(1):146-8. doi: 10.1373/clinchem.2006.077529.

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

Clin Chim Acta. 2007 Sep;384(1-2):93-8. doi: 10.1016/j.cca.2007.06.008. Epub 2007 Jun 16.

The lactase gene -13910T allele can not predict the lactase-persistence phenotype in north China.

Asia Pac J Clin Nutr. 2007;16(4):598-601.

Lactase persistence genotyping: rapid detection of seven sequence variants in a single tube with melting curve analyses.

Clin Chem Lab Med. 2014 Sep;52(9):1277-82. doi: 10.1515/cclm-2014-0123.

The -13914G>A variant upstream of the lactase gene (LCT) is associated with lactase persistence/non-persistence.

Scand J Clin Lab Invest. 2010 Sep;70(5):354-7. doi: 10.3109/00365513.2010.491554.

A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?

Hum Genet. 2007 Feb;120(6):779-88. doi: 10.1007/s00439-006-0291-1. Epub 2006 Nov 21.

Diagnosis of genetic predisposition for lactose intolerance by high resolution melting analysis.

Ann Biol Clin (Paris). 2017 Feb 1;75(1):67-74. doi: 10.1684/abc.2016.1210.

[Useful genetic test for lactase deficiency].

Tidsskr Nor Laegeforen. 2008 Feb 28;128(5):593.

Evaluation of a novel reverse-hybridization StripAssay for typing DNA variants useful in diagnosis of adult-type hypolactasia.

Clin Chim Acta. 2008 Jun;392(1-2):58-62. doi: 10.1016/j.cca.2008.03.006. Epub 2008 Mar 18.

Comparison of a real-time polymerase chain reaction assay for lactase genetic polymorphism with standard indirect tests for lactose maldigestion.

Clin Gastroenterol Hepatol. 2007 Feb;5(2):192-6. doi: 10.1016/j.cgh.2006.06.009. Epub 2006 Jul 28.

引用本文的文献

Development of a novel SNP assay to detect lactase persistence associated genetic variants.

Mol Biol Rep. 2021 Nov;48(11):7087-7093. doi: 10.1007/s11033-021-06698-y. Epub 2021 Sep 13.

Lactose Intolerance Assessed by Analysis of Genetic Polymorphism, Breath Test and Symptoms in Patients with Inflammatory Bowel Disease.

Nutrients. 2021 Apr 14;13(4):1290. doi: 10.3390/nu13041290.

Lactose intolerance: diagnosis, genetic, and clinical factors.

Clin Exp Gastroenterol. 2012;5:113-21. doi: 10.2147/CEG.S32368. Epub 2012 Jul 5.

The -14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity.

Hum Genet. 2011 Oct;130(4):483-93. doi: 10.1007/s00439-011-0966-0. Epub 2011 Feb 15.

Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group.

J Mol Evol. 2009 Dec;69(6):579-88. doi: 10.1007/s00239-009-9301-y. Epub 2009 Nov 24.

Lactose digestion and the evolutionary genetics of lactase persistence.

Hum Genet. 2009 Jan;124(6):579-91. doi: 10.1007/s00439-008-0593-6. Epub 2008 Nov 26.

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture.

Am J Hum Genet. 2008 Jan;82(1):57-72. doi: 10.1016/j.ajhg.2007.09.012.