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001-es BibID:BIBFORM043021
035-os BibID:PMID:23293579
Első szerző:Balogh István (molekuláris biológus, genetikus)
Cím:Mutational spectrum of Smith-Lemli-Opitz syndrome patients in Hungary / I. Balogh, K. Koczok, G. P. Szabó, O. Török, K. Hadzsiev, G. Csábi, L. Balogh, E. Dzsudzsák, É. Ajzner, L. Szabó, V. Csákváry, A. V. Oláh
Dátum:2012
Megjegyzések:Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessivedisorder characterized by multiple congenital abnormalitiesand mental retardation. The condition is caused by the deficiencyof 7-dehydrocholesterol reductase (DHCR7) whichcatalyzes the final step in cholesterol biosynthesis. Biochemicaldiagnosis is based on increased concentration of 7-dehydrocholesterol(7-DHC) in the patient serum. Both life expectancyand quality of life are severely affected by the disease.The estimated prevalence of SLO syndrome ranges between1: 20,000 and 1: 40,000 among Caucasians. Although the mutationalspectrum of the disease is wide, approximately 10mutations are responsible for more than 80% of the cases.These mutations show a large interethnic variability. Thereare no mutation distribution data from Hungary to date.Thirteen patients were diagnosed with SLO syndrome in ourlaboratory. As first-line tests, serum 7-DHC and total cholesterolwere measured and, in positive cases, molecular geneticanalysis of the DHCR7 gene was performed. Completegenetic background of the disease could be identified in 12cases. In 1 case only 1 mutation was detected in a heterozygoteform. One patient was homozygous for the commonsplice site mutation c.964?1G 1 C, while all other patientswere compound heterozygotes. One novel missense mutation,c.374A 1 G (p.Tyr125Cys) was identified.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
cholesterol
SLO syndrome
DHCR7
Hungary
Mutation
Megjelenés:Molecular Syndromology. - 3 : 5 (2012), p. 215-222. -
További szerzők:Koczok Katalin (1979-) (labororvos) P. Szabó Gabriella (1975-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Török Olga (1956-) (szülész-nőgyógyász, humángenetikus) Hadzsiev Kinga Csábi Györgyi Balogh Lajos Dzsudzsák Erika Ajzner Éva (1968-) (laboratóriumi szakorvos) Szabó L. (orvos Szombathely) Csákváry Violetta Oláh Anna (1956-) (klinikai biokémikus, vegyész)
Internet cím:DOI
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001-es BibID:BIBFORM072517
035-os BibID:(cikkazonosító)158 (WoS)000426305200003 (Scopus)85042425048
Első szerző:Ivády Gergely (laboratóriumi szakorvos)
Cím:Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system / Ivády Gergely, Madar László, Dzsudzsák Erika, Koczok Katalin, Kappelmayer János, Krulisova Veronika, Macek Milan, Horváth Attila, Balogh István
Dátum:2018
ISSN:1471-2164
Megjegyzések:BackgroundCurrent technologies in next-generation sequencing are offering high throughput reads at low costs, but still suffer from various sequencing errors. Although pyro- and ion semiconductor sequencing both have the advantage of delivering long and high quality reads, problems might occur when sequencing homopolymer-containing regions, since the repeating identical bases are going to incorporate during the same synthesis cycle, which leads to uncertainty in base calling. The aim of this study was to evaluate the analytical performance of a pyrosequencing-based next-generation sequencing system in detecting homopolymer sequences using homopolymer-preintegrated plasmid constructs and human DNA samples originating from patients with cystic fibrosis.ResultsIn the plasmid system average correct genotyping was 95.8% in 4-mers, 87.4% in 5-mers and 72.1% in 6-mers. Despite the experienced low genotyping accuracy in 5- and 6-mers, it was possible to generate amplicons with more than a 90% adequate detection rate in every homopolymer tract. When homopolymers in the CFTR gene were sequenced average accuracy was 89.3%, but varied in a wide range (52.2 ? 99.1%). In all but one case, an optimal amplicon-sequencing primer combination could be identified. In that single case (7A tract in exon 14 (c.2046_2052)), none of the tested primer sets produced the required analytical performance.ConclusionsOur results show that pyrosequencing is the most reliable in case of 4-mers and as homopolymer length gradually increases, accuracy deteriorates. With careful primer selection, the NGS system was able to correctly genotype all but one of the homopolymers in the CFTR gene. In conclusion, we configured a plasmid test system that can be used to assess genotyping accuracy of NGS devices and developed an accurate NGS assay for the molecular diagnosis of CF using self-designed primers for amplification and sequencing.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Pyrosequencing
Homopolymer detection
Cystic fibrosis
Megjelenés:BMC Genomics. - 19 (2018), p. 1-8. -
További szerzők:Madar László (1972-) (klinikai laboratóriumi kutató) Dzsudzsák Erika Koczok Katalin (1979-) (labororvos) Kappelmayer János (1960-) (laboratóriumi szakorvos) Krulisova, Veronika Macek Jr., Milan Horváth Attila (1988-) (programtervező informatikus) Balogh István (1972-) (molekuláris biológus, genetikus)
Pályázati támogatás:K109076
OTKA
GINOP-2.3.2-15-2016-00039
GINOP
Internet cím:Szerző által megadott URL
DOI
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