2006
DOI: 10.1677/jme.1.01903
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Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene

Abstract: The identification of mutations in the MEN1 gene causing MEN1 has represented a challenge since the cloning of the gene in 1997 because of the lack of mutation hot-spots in the gene and the lack of phenotype-genotype correlations. The use of denaturing high performance liquid chromatography (DHPLC), a high throughput, reliable and automated heteroduplex-based technique, is the ideal for mutation detection in MEN1. In this work, DHPLC was optimised for the screening of the nine coding exons and splice junctions… Show more

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Cited by 16 publications
(7 citation statements)
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“…Several groups have described DHPLC methods for the identification of LQTS-associated mutations [Jongbloed et al, 2002;Lai et al, 2005]; a number of publications report sensitivity and specificity values o97% [Crepin et al, 2006;Fasano et al, 2005;Holinski-Feder et al, 2001]. Considerable optimization of the analysis temperature is required, and in many cases samples were investigated at multiple temperatures in order to improve sensitivity and specificity.…”
Section: Methods Of Mutation Screeningmentioning
confidence: 99%
“…Several groups have described DHPLC methods for the identification of LQTS-associated mutations [Jongbloed et al, 2002;Lai et al, 2005]; a number of publications report sensitivity and specificity values o97% [Crepin et al, 2006;Fasano et al, 2005;Holinski-Feder et al, 2001]. Considerable optimization of the analysis temperature is required, and in many cases samples were investigated at multiple temperatures in order to improve sensitivity and specificity.…”
Section: Methods Of Mutation Screeningmentioning
confidence: 99%
“…A newer technique that detects heteroduplexes in PCR amplicons by ion-pair reverse-phase high performance liquid chromatography has been developed (Oefner & Underhill 1998, Xiao & Oefner 2001. Denaturing highperformance liquid chromatography (DHPLC) has proved useful for mutational analysis of genes such as MEN1 (Crépin et al 2006), RB1 (Houdayer et al 2004), ENG and ALK-1 (Lenato et al 2006), NPHS2/podocin (He et al 2007), and BRCA1/2 (Gerhardus et al 2007). We (Hendy et al 2003) and others (Waller et al 2004) have successfully utilized the DHPLC method for CASR mutational analysis in a few cases.…”
Section: Introductionmentioning
confidence: 99%
“…It is now recognized that long-standing H. pylori infection may lead to CAG and pernicious anaemia (PA) (14,15), which should be differentiated from the classic autoimmune CAG. Moreover, there is evidence from studies in animals and humans that H. pylori infection may also lead to development of GCs, at least in certain ethnic groups (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18). Proposed pathogenetic mechanisms involve the tropic stimulus of hypergastrinaemia and a possible direct mitogenic effect of H. pylori lipopolysaccharide on gastric ECL cells.…”
Section: Discussionmentioning
confidence: 99%
“…The coding exons (2-10) and respective splice junctions of the MEN1 gene were amplified by PCR and subjected to denaturing high performance liquid chromatography as described previously (12). The method has 100% sensitivity for mutation detection compared with direct sequencing.…”
Section: Hormonal and Other Assaysmentioning
confidence: 99%