Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F09%3A4096" target="_blank" >RIV/00216208:11110/09:4096 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/09:4096
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis
Original language description
Acute intermittent porphyria (AIP) represents the most frequent type of acute porphyria. The underlying cause is a defect in the hydroxymethylbilane synthase (HMBS) gene. Diagnosis of AIP is crucial for preventing life-threatening, acute attacks among both symptomatic and asymptomatic carriers. We established the diagnostic tool, high-resolution melting (HRM), for diagnosing AIP. Of 13 amplicons amplified by PCR in the presence of the LCGreen Plus dye, 4 showed polymorphic backgrounds. The ability of the HRM method to detect DNA variations in the HMBS gene was tested on a DNA sample with 10 known mutations by a curve shape scan using the LightScanner instrument. Furthermore, genomic DNA (gDNA) samples from 97 individuals with suspected hepatic porphyria were tested. All possible genotypes from each of four polymorphic amplicons were detected. Each of the 10 mutations tested had an altered melting profile compared with the melting profile of the controls.
Czech name
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Czech description
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Project
<a href="/en/project/1M0520" target="_blank" >1M0520: Center for Applied Genomics</a>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP) Z - Vyzkumny zamer (s odkazem do CEZ) S - Specificky vyzkum na vysokych skolach

Publication year
2009
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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