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

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About: Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. 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. (en)
Title	Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis (en)
skos:prefLabel	Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis (en)
skos:notation	RIV/00216208:11110/09:4096!RIV10-MSM-11110___
http://linked.open...avai/riv/aktivita	P S Z
http://linked.open...avai/riv/aktivity	P(1M0520), S, Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Ulbrichová, Dana Martásek, Pavel
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	309778
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:4096
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Acute intermittent porphyria; Hydroxymethylbilane synthase; Porphobilinogen deaminase; Porphyria; High-resolution melting; LightScanner; acute intermittent porphyria; porphobilinogen deaminase gene; molecular diagnostics; pcr detection; mutations; population; exon-10; protein (en)
http://linked.open.../riv/klicoveSlovo	molecular diagnostics Hydroxymethylbilane synthase LightScanner Porphobilinogen deaminase exon-10 pcr detection mutations population protein High-resolution melting porphobilinogen deaminase gene Porphyria acute intermittent porphyria Acute intermittent porphyria
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[05CC9D83C371]
http://linked.open...i/riv/nazevZdroje	Analytical Biochemistry
http://linked.open...in/vavai/riv/obor	CE
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	2 (xsd:int)
http://linked.open...vavai/riv/projekt	Center for Applied Genomics
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	395
http://linked.open...iv/tvurceVysledku	Martásek, Pavel Ulbrichová, Dana
http://linked.open...ain/vavai/riv/wos	000272884200006
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0003-2697
number of pages	8 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis

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