Effective Characterization of DNA Ligation Kinetics by High‐Resolution Melting Analysis

ChemBioChem ◽  
2019 ◽  
Vol 21 (6) ◽  
pp. 785-788 ◽  
Author(s):  
Jianming Zhu ◽  
Jing Wang ◽  
Kai Cheng ◽  
Hui Chen ◽  
Ran An ◽  
...  
Keyword(s):  
High Resolution ◽  
High Resolution Melting ◽  
High Resolution Melting Analysis ◽  
Dna Ligation ◽  
Melting Analysis

Evaluation and characterization of a high-resolution melting analysis kit for rapid carrier-screening test of spinal muscular atrophy

2015 ◽  
Vol 29 (2-3) ◽  
pp. 113-116 ◽  
Author(s):  
Kai Chen Wang ◽  
Chi Chang Chang ◽  
Yu-Fen Chang ◽  
Szu-hsien Wang ◽  
Chien-Kuan Chiang ◽  
...  
Keyword(s):  
High Resolution ◽  
Spinal Muscular Atrophy ◽  
Screening Test ◽  
High Resolution Melting ◽  
Muscular Atrophy ◽  
Carrier Screening ◽  
High Resolution Melting Analysis ◽  
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.

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