High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A12190" target="_blank" >RIV/00216208:11110/12:12190 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00064165:_____/12:12190
Výsledek na webu
<a href="http://dx.doi.org/10.1038/jhg.2012.49" target="_blank" >http://dx.doi.org/10.1038/jhg.2012.49</a>
DOI - Digital Object Identifier
—
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
Popis výsledku v původním jazyce
Cytochrome-c oxidase (COX) deficiency is one of the common childhood mitochondrial disorders. Mutations in genes for the assembly factors SURF1 and SCO2 are prevalent in children with COX deficiency in the Slavonic population. Molecular diagnosis is difficult because of the number of genes involved in COX biogenesis and assembly. The aim of this study was to screen for mutations in 15 nuclear genes that encode the 10 structural subunits, their isoforms and two assembly factors of COX in 60 unrelated Czech children with COX deficiency. Nine novel variants were identified in exons and adjacent intronic regions of COX412, COX6A1, COX6A2, COX7A1, COX7A2 and COX10 using high-resolution melting (HRM) analysis. Online bioinformatics servers were used to predict the importance of the newly identified amino-acid substitutions. The newly characterized variants updated the contemporary spectrum of known genetic sequence variations that are present in the Czech population, which will be important
Název v anglickém jazyce
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
Popis výsledku anglicky
Cytochrome-c oxidase (COX) deficiency is one of the common childhood mitochondrial disorders. Mutations in genes for the assembly factors SURF1 and SCO2 are prevalent in children with COX deficiency in the Slavonic population. Molecular diagnosis is difficult because of the number of genes involved in COX biogenesis and assembly. The aim of this study was to screen for mutations in 15 nuclear genes that encode the 10 structural subunits, their isoforms and two assembly factors of COX in 60 unrelated Czech children with COX deficiency. Nine novel variants were identified in exons and adjacent intronic regions of COX412, COX6A1, COX6A2, COX7A1, COX7A2 and COX10 using high-resolution melting (HRM) analysis. Online bioinformatics servers were used to predict the importance of the newly identified amino-acid substitutions. The newly characterized variants updated the contemporary spectrum of known genetic sequence variations that are present in the Czech population, which will be important
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
EB - Genetika a molekulární biologie
OECD FORD obor
—
Návaznosti výsledku
Projekt
<a href="/cs/project/NS10581" target="_blank" >NS10581: Genetická podstata poruch cytochrom c oxidázy</a><br>
Návaznosti
S - Specificky vyzkum na vysokych skolach
Ostatní
Rok uplatnění
2012
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Journal of Human Genetics
ISSN
1434-5161
e-ISSN
—
Svazek periodika
57
Číslo periodika v rámci svazku
7
Stát vydavatele periodika
JP - Japonsko
Počet stran výsledku
7
Strana od-do
442-448
Kód UT WoS článku
000306739900008
EID výsledku v databázi Scopus
—