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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A12190%21RIV13-MZ0-00064165
rdf:type
skos:Concept n10:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1038/jhg.2012.49
dcterms:description
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 for further targeted mutation screening in Czech COX-deficient children. HRM and predictive bioinformatics methodologies are advantageous because they are low-cost screening tools that complement large-scale genomic studies and reduce the required time and effort. Journal of Human Genetics (2012) 57, 442-448; doi:10.1038/jhg.2012.49; published online 17 May 2012 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 for further targeted mutation screening in Czech COX-deficient children. HRM and predictive bioinformatics methodologies are advantageous because they are low-cost screening tools that complement large-scale genomic studies and reduce the required time and effort. Journal of Human Genetics (2012) 57, 442-448; doi:10.1038/jhg.2012.49; published online 17 May 2012
dcterms:title
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
skos:prefLabel
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
skos:notation
RIV/00064165:_____/12:12190!RIV13-MZ0-00064165
n10:predkladatel
n11:ico%3A00064165
n3:aktivita
n13:S n13:P
n3:aktivity
P(NS10581), S
n3:cisloPeriodika
7
n3:dodaniDat
n4:2013
n3:domaciTvurceVysledku
n12:5315263 n12:1045261 n12:9177981 n12:5990823 n12:6270875
n3:druhVysledku
n14:J
n3:duvernostUdaju
n5:S
n3:entitaPredkladatele
n15:predkladatel
n3:idSjednocenehoVysledku
139034
n3:idVysledku
RIV/00064165:_____/12:12190
n3:jazykVysledku
n16:eng
n3:klicovaSlova
cytochrome-c oxidase; mutation; prediction; SNP; amino-acid substitutions; mitochondrial-dna mutations; small amplicons; sequence variation; protein function; human-disease; polymorphisms; cardiomyopathy; diagnostics; validation
n3:klicoveSlovo
n8:small%20amplicons n8:cardiomyopathy n8:diagnostics n8:protein%20function n8:validation n8:mitochondrial-dna%20mutations n8:human-disease n8:cytochrome-c%20oxidase n8:amino-acid%20substitutions n8:polymorphisms n8:SNP n8:mutation n8:sequence%20variation n8:prediction
n3:kodStatuVydavatele
JP - Japonsko
n3:kontrolniKodProRIV
[A333D9488752]
n3:nazevZdroje
Journal of Human Genetics
n3:obor
n19:EB
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
7
n3:projekt
n17:NS10581
n3:rokUplatneniVysledku
n4:2012
n3:svazekPeriodika
57
n3:tvurceVysledku
Rozsypalová, Eva Zajícová Dočekalová, Dagmar Zeman, Jiří Hansíková, Hana Veselá, Kateřina Tesařová, Markéta Vondráčková, Alžběta
n3:wos
000306739900008
s:issn
1434-5161
s:numberOfPages
7