Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene

Millat, Gilles; Chanavat, Valérie; Julia, Sophie; Crehalet, Hervé; Bouvagnet, Patrice; Rousson, Robert

doi:10.1016/j.clinbiochem.2009.01.016

Cited by 24 publications

(16 citation statements)

References 25 publications

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“…However, wild type lamin A transfected alone has consistently shown to localize to the inner nuclear lamina with some nucleoplasmic localization. Conversely, lamin C has been shown to localize as intranuclear aggregate [18,[32][33][34][35][36]. Intranuclear lamin C has shown to be more mobile than intranuclear lamin A [36,37].…”

Section: Introductionmentioning

confidence: 99%

Lamin A/C mutations in dilated cardiomyopathy

et al. 2014

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Section: Introductionmentioning

confidence: 99%

Lamin A/C mutations in dilated cardiomyopathy

et al. 2014

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“…Nevertheless, numerous SNPs have been reported from population based studies which are known to cause specific laminopathies like Charcot–Marie–Tooth Disorder, familial partial Lipodystrophy and Emery–Dreifus Muscular dystrophy (EDMD) [17], [18]. 165 LMNA mutations have been known to be associated with DCM till date based on studies from Europe, USA and some South East Asian countries but, there are no reports till date establishing any association of SNPs in LMNA with IDCM barring one [25]. However, in a recent report from a Genome Wide Association Study (GWAS) with DCM patients identified two different loci 1) rs10927875 and 2) rs2234962.…”

Section: Discussionmentioning

confidence: 99%

“…Through genetic analysis we have revealed the association of 8 different LMNA SNPs with IDCM patients. Among these 8 SNPs, SNPs rs538089, rs505058, and rs4641 were previously reported to be associated with DCM in French population [25]. The rests of the SNPs rs121117552, rs646840, rs534807, rs80356803, and rs7339 were hitherto reported for other diseases but not DCM.…”

Section: Introductionmentioning

confidence: 97%

Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study

Banerjee

Ghoshal

Sengupta

2015

IJC Heart & Vasculature

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BackgroundDilated Cardiomyopathy (DCM) is one of the most commonly encountered heart diseases reported globally. It is characterized by enlarged ventricles with impaired systolic and diastolic functions. Mutations in LMNA gene are one of the causative factors to precipitate the disease. However, association of SNPs of LMNA with DCM in particular has not been well documented.MethodHere we present a limited and restricted case study of patients from south eastern part of India afflicted with idiopathic DCM and conduction defects. By using next generation sequencing we have sequenced the exons of LMNA gene from genomic DNA isolated from patients.ResultWe have identified the linkage of 8 different LMNA SNPs with idiopathic DCM viz. rs121117552, rs538089, rs505058, rs4641, rs646840, rs534807, rs80356803 and rs7339. These SNPs are scattered throughout the gene with prevalence for the region encoding the central rod domain of lamin A/C.ConclusionMost of these SNPs in LMNA were previously reported to be involved in various disorders other than DCM. We conclude that, variation in LMNA is one of the major underlying genetic causes for the pathogenesis of DCM, as observed in few Indian populations.

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“…To evaluate the efficiency and sensitivity of HRM compared with DHPLC for the detection of genetic variations, different investigations including LMNA, SCN5A, and ABCA4 gene mutations were conducted (33)(34)(35). In those studies, HRM was found to be faster compared with DHPLC; moreover, HRM showed better sensitivity and specificity than DHPLC.…”

Section: Discussionmentioning

confidence: 99%

Comparison of high-resolution melting analysis to denaturing high performance liquid chromatography in the detection of point mutations in MEFV, F5, and F2 genes

Çelebi¹,

Özdağ²

2014

Turk J Med Sci

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Background/aim: Sensitive and cost-effective detection of point mutations is important in genetics research. Denaturing highperformance liquid chromatography (DHPLC) is known to be one of the most sensitive techniques for point mutation detection. A more recent technique, high-resolution melting (HRM), is based on the melting behavior of PCR products. In this study, the efficiency and sensitivity of HRM and DHPLC for the detection of MEFV, F5, and F2 gene point mutations were evaluated. Materials and methods:We studied 15 patients with MEFV mutations (E148Q, M680I, M694V, or V726A), 7 patients with the F51691G>A mutation, and 12 patients with the F220210G>A mutation. All mutations were screened by HRM and DHPLC.Results: All mutations were successfully detected by HRM. However, only 4 (MEFV E148Q and M680I, F51691G>A, and F220210G>A) of 6 mutations were successfully detected with DHPLC. Conclusion:Our study showed that HRM is more sensitive than DHPLC for detection of the studied point mutations.

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Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene

Cited by 24 publications

References 25 publications

Lamin A/C mutations in dilated cardiomyopathy

Lamin A/C mutations in dilated cardiomyopathy

Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study

Comparison of high-resolution melting analysis to denaturing high performance liquid chromatography in the detection of point mutations in MEFV, F5, and F2 genes

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