EurekaMag
+ Translate
+ Most Popular
Gaucher's disease;thirty-two years experience at Siriraj Hospital
A study of Macrobathra Meyrick from China (Lepidoptera, Cosmopterigidae)
First occurrence in ores of tetragonal chalcocite
Effects of trace element nutrition on sleep patterns in adult women
N.Z. range management guidelines. 2. Design of grazing management systems for tussock country
A case of lipoma of the esophagus
A revision of world Acanthosomatidae (Heteroptera: Pentatomidae): keys to and descriptions of subfamilies, tribes and genera, with designation of types
Life history of the coronate scyphozoan Linuche unguiculata (Swartz, 1788)
Perceptual restoration of obliterated sounds
Mutagenicity studies on two chromium(III) coordination compounds
The formation of the skeleton. I. Growth of a long bone. 1st appearance of a center of calcification
Leucopenia and abnormal liver function in travellers on malaria chemoprophylaxis
The joint commission: four key root causes loom large in sentinel event data
Treatment of vitiligo with topical 15% lactic acid solution in combination with ultra violet-A
Behaviour of dairy cows within three hours after feed supply: I. Influence of housing type and time elapsing after feed supply
Observations of the propagation velocity and formation mechanism of burst fractures caused by gunshot
Management and control of patients with type 2 diabetes mellitus in Lebanon: results from the International Diabetes Management Practices Study (IDMPS)
The diet composition and nutritional knowledge of patients with anorexia nervosa
Physoporella croatica Herak, 1958 of the Slovak karst Anisian (Slovakia, the West Carpathians Mts.)
Bright lights, big noise. How effective are vehicle warning systems?
Ein Plesiosaurier-Rest mit Magensteinen aus mittlerem Lias von Quedlinburg
Incidence of Chlamydia trachomatis in patients with sterility
Monster soup: the microscope and Victorian fantasy
Preliminary tests with residual sprays against poultry lice
Duration of the life of plants in phylogeny

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


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



Clinical Biochemistry 42(9): 892-898



ISSN/ISBN: 0009-9120

PMID: 19318026

DOI: 10.1016/j.clinbiochem.2009.01.016

LMNA mutations lead to a wide spectrum of disorders now called laminopathies. Due to large cohorts to investigate, mutational screening must be performed using an extremely sensitive and specific scanning method. High Resolution Melting (HRM) analysis was developed for LMNA mutation detection. A cohort of 64 patients with dilated cardiomyopathy was prospectively screened using both HRM and DHPLC methodologies. All gene variants detected by DHPLC or by direct sequencing were also readily identified as abnormal by HRM analysis. Mutations were identified in 7 patients (approximately 11%). Complete molecular LMNA investigation was completed two times faster and cheaper than using DHPLC strategy. HRM analysis represents an inexpensive, highly sensitive and high-throughput method to identify LMNA genetic variants. The discovery of novel LMNA mutations will provide new insights into the pathophysiology of dilated cardiomyopathy and in all other laminopathies.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 056836385

Download citation: RISBibTeXText

Related references

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512(1): 70-75, 2013

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Journal of Molecular Diagnostics: Jmd 10(5): 424-434, 2008

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clinical Chemistry 53(2): 349-352, 2007

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Human Mutation 30(6): 884-890, 2009

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Human Mutation 30(6): 899-909, 2009

Mutation scanning of exon 20 of the BRCA1 gene by high-resolution melting curve analysis. Clinical Biochemistry 43(1-2): 178-185, 2010

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene. Investigative Ophthalmology and Visual Science 51(5): 2615-2619, 2010

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. Journal of Inherited Metabolic Disease 33(3): 247-260, 2010

A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. American Journal of Clinical Pathology 124(3): 330-338, 2005

Mutation scanning of the RET protooncogene using high-resolution melting analysis. Clinical Chemistry 52(1): 138-141, 2006

Evaluation of high-resolution melting (HRM) for mutation scanning of selected exons of the CFTR gene. Folia Biologica 55(6): 238-242, 2009

Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis. Nature Protocols 2(1): 59-66, 2007

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. Journal of Human Genetics 61(7): 617-625, 2016

Mutation scanning and genotyping by high-resolution DNA melting analysis in olive germplasm. Genome 52(3): 252-260, 2009

High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clinical Chemistry 51(10): 1770-1777, 2005