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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)
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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
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001-es BibID:	BIBFORM016396
Első szerző:	Ivády Gergely (laboratóriumi szakorvos)
Cím:	Distribution of CFTR mutations in Eastern Hungarians : relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis? / Ivady Gergely, Madar Laszlo, Nagy Bela, Gonczi Ferenc, Ajzner Eva, Dzsudzsak Erika, Dvoráková Lenka, Gombos Eva, Kappelmayer Janos, Macek Milan Jr., Balogh Istvan
Dátum:	2011
ISSN:	1569-1993
Megjegyzések:	The aim of this study was characterization of an updated distribution of CFTR mutations in a representative cohort of 40 CF patients with the classical form of the disease drawn from Eastern Hungary. Due to the homogeneity of the Hungarian population our data are generally applicable to other regions of the country, including the sizeable diaspora. Methods: We utilized the recommended "cascade" CFTR mutation screening approach, initially using a commercial assay, followed by examination of the common "Slavic" deletion CFTRdele2,3(21 kb). Subsequently, the entire CFTR coding region of the CFTR gene was sequenced in patients with yet unidentified mutations. Results: The Elucigene CF29Tm v2 assay detected 81.25% of all CF causing mutations. An addition of the CFTRdele2,3(21 kb) increased the mutation detection rate to 86.25%. DNA sequencing enabled us to identify mutations on 79/80 CF alleles. Mutations [CFTRdele2,3(21 kb), p.Gln685ThrfsX4 (2184insA) were found at an unusually high frequency, each comprising 5.00% of all CF alleles. Conclusion: We have identified common CF causing mutations in the Hungarian population with the most common mutations (p.Phe508del, p.Asn1303Lys, CFTRdele2,3(21 kb), 2184insA, p.Gly542X, and p.Leu101X), comprising over 93.75% of all CF alleles. Obtained data are applicable to the improvement of DNA diagnostics in Hungary and beyond, and are the necessary prerequisite for the introduction of a nationwide "two tier" CF newborn screening program.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Molekuláris Medicina
Megjelenés:	Journal of Cystic Fibrosis 10 : 3 (2011), p. 217-220. -
További szerzők:	Madar László (1972-) (klinikai laboratóriumi kutató) Nagy Béla (1949-) (csecsemő- és gyermekgyógyász, gyermek-tüdőgyógyász) Gönczi Ferenc (Kenézy Gyula Kórház) Ajzner Éva (1968-) (laboratóriumi szakorvos) Dzsudzsák Erika Dvorakova, Lenka Gombos Éva (1966-) (orvosdiagnosztikai laboratóriumi analitikus) Kappelmayer János (1960-) (laboratóriumi szakorvos) Macek Jr., Milan Balogh István (1972-) (molekuláris biológus, genetikus)
Pályázati támogatás:	TÁMOP-4.2.1/B-09/1/KONV-2010-0007 TÁMOP Celluláris hematológia - immunológia
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001-es BibID:	BIBFORM042063
Első szerző:	Losonczy Gergely (szemész)
Cím:	Effect of the Gas6 c.834+7G>A Polymorphism and the Interaction of Known Risk Factors on AMD Pathogenesis in Hungarian Patients / Gergely Losonczy, Attila Vajas, Lili Takács, Erika Dzsudzsák, Ágnes Fekete, Éva Márhoffer, László Kardos, Éva Ajzner, Begoña Hurtado, Pablo Garcia de Frutos, András Berta, István Balogh
Dátum:	2012
Megjegyzések:	Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly in the developed world. Numerous genetic factors contribute to the development of the multifactorial disease. We performed a case-control study to assess the risk conferred by known and candidate genetic polymorphisms on the development of AMD. We searched for genetic interactions and for differences in dry and wet AMD etiology. We enrolled 213 patients with exudative, 67 patients with dry AMD and 106 age and ethnically matched controls. Altogether 12 polymorphisms in Apolipoprotein E, complement factor H, complement factor I, complement component 3, blood coagulation factor XIII, HTRA1, LOC387715, Gas6 and MerTK genes were tested. No association was found between either the exudative or the dry form and the polymorphisms in the Apolipoprotein E, complement factor I, FXIII and MerTK genes. Gas6 c.834+7G>A polymorphism was found to be significantly protective irrespective of other genotypes, reducing the odds of wet type AMD by a half (OR = 0.50, 95%CI: 0.26-0.97, p = 0.04). Multiple regression models revealed an interesting genetic interaction in the dry AMD subgroup. In the absence of C3 risk allele, mutant genotypes of both CFH and HTRA1 behaved as strongly significant risk factors (OR = 7.96, 95%CI: 2.39 = 26.50, p = 0.0007, and OR = 36.02, 95%CI: 3.30-393.02, p = 0.0033, respectively), but reduced to neutrality otherwise. The risk allele of C3 was observed to carry a significant risk in the simultaneous absence of homozygous CFH and HTRA1 polymorphisms only, in which case it was associated with a near-five-fold relative increase in the odds of dry type AMD (OR = 4.93, 95%CI: 1.98-12.25, p = 0.0006). Our results suggest a protective role of Gas6 c.834+7G>A polymorphism in exudative AMD development. In addition, novel genetic interactions were revealed between CFH, HTRA1 and C3 polymorphisms that might contribute to the pathogenesis of dry AMD.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban egyetemen (Magyarországon) készült közlemény
Megjelenés:	PLoS One. - 7 : 11 (2012), p. e50181. -
További szerzők:	Vajas Attila (1973-) (szemész) Takács Lili (1969-) (szemész) Dzsudzsák Erika Fekete Ágnes Márhoffer Éva Kardos László (1970-) (megelőző orvostan és népegészségtan szakorvos) Ajzner Éva (1968-) (laboratóriumi szakorvos) Hurtado, Begona de Frutos, Pablo Garcia Berta András (1955-) (szemész, gyermekszemész) Balogh István (1972-) (molekuláris biológus, genetikus)
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