scholarly journals Development of Unlabeled Probe Based High-Resolution Melting Analysis for Detection of Filaggrin Gene Mutation c.3321delA

2016 ◽  
Vol 30 (6) ◽  
pp. 892-896 ◽  
Author(s):  
Wei-Long Zhong ◽  
Luo Wang ◽  
Xia Wu ◽  
Jie Zhang ◽  
Xiao-Fan Chen ◽  
...  
Keyword(s):  
High Resolution ◽  
Gene Mutation ◽  
High Resolution Melting ◽  
High Resolution Melting Analysis ◽  
Unlabeled Probe ◽  
Melting Analysis

scholarly journals Identification of TNIP1 Polymorphisms by High Resolution Melting Analysis with Unlabelled Probe: Association with Systemic Lupus Erythematosus

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Jie Zhang ◽  
Yuewen Chen ◽  
Yong Shao ◽  
Qi Wu ◽  
Ming Guan ◽  
...  
Keyword(s):  
High Resolution ◽  
Lupus Erythematosus ◽  
Chinese Population ◽  
High Resolution Melting ◽  
Disease Risk ◽  
High Resolution Melting Analysis ◽  
Negative Regulator ◽  
Hrm Analysis ◽  
Unlabeled Probe ◽  
Melting Analysis

Background. TNFα-induced protein 3 (TNFAIP3) interacting with protein 1 (TNIP1) acts as a negative regulator of NF-κB and plays an important role in maintaining the homeostasis of immune system. A recent genome-wide association study (GWAS) showed that the polymorphism of TNIP1 was associated with the disease risk of SLE in Caucasian. In this study, we investigated whether the association of TNIP1 with SLE was replicated in Chinese population.Methods. The association of TNIP1 SNP rs7708392 (G/C) was determined by high resolution melting (HRM) analysis with unlabeled probe in 285 SLE patients and 336 healthy controls.Results. A new SNP rs79937737 located on 5 bp upstream of rs7708392 was discovered during the HRM analysis. No association of rs7708392 or rs79937737 with the disease risk of SLE was found. Furthermore, rs7708392 and rs79937737 were in weak linkage disequilibrium (LD). Hypotypes analysis of the two SNPs also showed no association with SLE in Chinese population.Conclusions. High resolution melting analysis with unlabeled probes proves to be a powerful and efficient genotyping method for identifying and screening SNPs. No association of rs7708392 or rs79937737 with the disease risk of SLE was observed in Chinese population.

Genotyping cytomegalovirus UL97 mutations by high-resolution melting analysis with unlabeled probe

2011 ◽  
Vol 157 (3) ◽  
pp. 475-481 ◽  
Author(s):  
Xiao-Tao Zhao ◽  
Dan-Qiu Zhou ◽  
Shuai Wu ◽  
Yue-Wen Chen ◽  
Yong Shao ◽  
...  
Keyword(s):  
High Resolution ◽  
High Resolution Melting ◽  
High Resolution Melting Analysis ◽  
Unlabeled Probe ◽  
Melting Analysis

scholarly journals Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

2021 ◽  
Author(s):  
Bertrand Chesneau ◽  
Aurélie Plancke ◽  
Guillaume Rolland ◽  
Nicolas Chassaing ◽  
Christine Coubes ◽  
...  
Keyword(s):  
High Resolution ◽  
Marfan Syndrome ◽  
High Resolution Melting ◽  
De Novo ◽  
Direct Sequencing ◽  
Causal Variant ◽  
Connective Tissue Disorder ◽  
High Resolution Melting Analysis ◽  
Aortic Diseases ◽  
Melting Analysis

AbstractMarfan syndrome (MFS) is a heritable connective tissue disorder (HCTD) caused by pathogenic variants in FBN1 that frequently occur de novo. Although individuals with somatogonadal mosaicisms have been reported with respect to MFS and other HCTD, the overall frequency of parental mosaicism in this pathology is unknown. In an attempt to estimate this frequency, we reviewed all the 333 patients with a disease-causing variant in FBN1. We then used direct sequencing, combined with High Resolution Melting Analysis, to detect mosaicism in their parents, complemented by NGS when a mosaicism was objectivized. We found that (1) the number of apparently de novo events is much higher than the classically admitted number (around 50% of patients and not 25% as expected for FBN1) and (2) around 5% of the FBN1 disease-causing variants were not actually de novo as anticipated, but inherited in a context of somatogonadal mosaicisms revealed in parents from three families. High Resolution Melting Analysis and NGS were more efficient at detecting and evaluating the level of mosaicism compared to direct Sanger sequencing. We also investigated individuals with a causal variant in another gene identified through our “aortic diseases genes” NGS panel and report, for the first time, on an individual with a somatogonadal mosaicism in COL5A1. Our study shows that parental mosaicism is not that rare in Marfan syndrome and should be investigated with appropriate methods given its implications in patient’s management.

scholarly journals Rapid detection of fungal pathogens in bronchoalveolar lavage samples using panfungal PCR combined with high resolution melting analysis

2016 ◽  
Vol 54 (7) ◽  
pp. 714-724 ◽  
Author(s):  
Matej Bezdicek ◽  
Martina Lengerova ◽  
Dita Ricna ◽  
Barbora Weinbergerova ◽  
Iva Kocmanova ◽  
...  
Keyword(s):  
High Resolution ◽  
Bronchoalveolar Lavage ◽  
Rapid Detection ◽  
Fungal Pathogens ◽  
High Resolution Melting ◽  
High Resolution Melting Analysis ◽  
Melting Analysis ◽  
Panfungal Pcr

High-resolution melting analysis for detection of MYH9 mutations

Platelets ◽  
2008 ◽  
Vol 19 (6) ◽  
pp. 471-475 ◽  
Author(s):  
Dana Provaznikova ◽  
Tereza Kumstyrova ◽  
Roman Kotlin ◽  
Peter Salaj ◽  
Vaclav Matoska ◽  
...  
Keyword(s):  
High Resolution ◽  
High Resolution Melting ◽  
High Resolution Melting Analysis ◽  
Melting Analysis
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