Back to Search
Start Over
High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting
- Publication Year :
- 2019
-
Abstract
- The ST18 ˗497-65050 T > C polymorphisms (rs17315309) exhibit a very strong association in the pathogenesis of Pemphigus Vulgaris (PV) and could represent a new potential molecular target for the treatment of disease. The present study aimed to establish a low-cost, sensitive and reliable assay using high-resolution melting curve analysis (HRMA) on magnetic induction rotor-based platform, the Magnetic Induction Cycler (MIC) (Bio molecular Systems). HRMA assay was able to identify easily and unambiguously the c.-497-65050 T > C genotypes evaluating melting curve shape and melting temperature (Tm). The results of HRMA were validated by direct DNA sequencing. The HRMA is rapid, sensitive, low-cost and high-throughput assay to screen the rs17315309 variant and could be used in clinical diagnostic laboratories.
- Subjects :
- 0301 basic medicine
Genotype
Melting temperature
Clinical Biochemistry
Computational biology
Biology
Nucleic Acid Denaturation
Polymorphism, Single Nucleotide
Sensitivity and Specificity
DNA sequencing
Melting curve analysis
High Resolution Melt
Pathology and Forensic Medicine
03 medical and health sciences
0302 clinical medicine
Risk Factors
medicine
Humans
Genetic Predisposition to Disease
Molecular Biology
Gene
Pemphigus vulgaris
Reproducibility of Results
ST18
Sequence Analysis, DNA
medicine.disease
Repressor Proteins
High Resolution melting analysi
030104 developmental biology
Risk variant
Molecular Diagnostic Techniques
030220 oncology & carcinogenesis
Pemphigus vulgari
Pemphigus
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....e007558d08a7a208b9f83faa0b7b2552