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001-es BibID:	BIBFORM023390
Első szerző:	Kósa Zsuzsanna
Cím:	Catalase - 262C>T polymorphisms in Hungarian vitiligo patients and in controls : further acatalasemia mutations in Hungary / Zsuzsanna Kósa, Zsolt Fejes, Teréz Nagy, Melinda Csordás, Enikő Simics, Éva Remenyik, László Góth
Dátum:	2012
Megjegyzések:	Catalase is the main regulator of hydrogenperoxide metabolism. In vitiligo patients there areconflicting data on its activity and no data on the effect of-262C[T polymorphism in the catalase gene. Blood catalaseactivity, -262C[T polymorphism and acatalasemiamutations were examined in 75 vitiligo patients and in 162controls, in Hungary. We measured blood catalase activityand conducted analyses with PCR-SSCP, polyacrylamidegel electrophoresis and silver staining in combination withRFLP and nucleotide sequencing. Comparison of the wild(CC) genotype and the mutant (TT) genotype in the vitiligopatients revealed a non significant (P[0.19) increase inblood catalase. Male controls with the CT genotype hadsignificantly (P\0.04) lower blood catalase activity thanCC genotype controls. Female vitiligo patients with CCgenotype had lower (P\0.04) blood catalase than femalecontrols. The frequency of wild genotype (CC) and Calleles is significantly (P\0.04) decreased in Hungariancontrols when compared to controls in Slovenia, Morocco,UK, Greece, Turkey, USA, China. The detection of a novelacatalasemia mutation (37C[T in exon 9) and the 113G[A(exon 9) mutation in Hungary are further proofs of geneticheterogeneity origin of acatalasemia mutations. In conclusion,the -262 C[T polymorphism has a reverse effecton blood catalase in vitiligo patients and in controls. Incontrols the mutant genotypes and alleles are more frequentin Hungary than in several other populations. The newacatalasemia mutations are further examples of heterogeneityof acatalasemia.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Acatalasemia Catalase gene mutations Screening RFLP Vitiligo
Megjelenés:	Molecular Biology Reports 39 : 4 (2012), p. 4787-4795. -
További szerzők:	Fejes Zsolt (1988-) (molekuláris biológus) Nagy Teréz (1971-) (molekuláris biológus) Csordás Melinda Simics Enikő (bőrgyógyász) Remenyik Éva (1956-) (bőrgyógyász) Góth László (1943-) (analitikus)
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM045358
035-os BibID:	PMID:22286031
Első szerző:	Nagy Teréz (molekuláris biológus)
Cím:	A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients / Nagy T., Csordás M., Kósa Zs., Góth L.
Dátum:	2012
ISSN:	0003-9861
Megjegyzések:	Catalase decreases the high, toxic concentrations of hydrogen peroxide but it lets the physiological, low concentrations in the cells mainly for signaling purposes. Its decreased activity may contribute to development of several pathological conditions. Catalase mutations occur frequently in exon 9, these were examined with different, complicated and costly methods. The aim of the current study was to evaluate a method for screening of polymorphisms in catalase exon 9. We used the slab gel electrophoresis of PCR amplicons without denaturation and silver staining for visualization of the DNA bands. We detected extra DNA bands in the 400-800 bp region of the catalase exon 9. Their single stranded nature was proved with nucleotide sequence analyses, comparison with the standard SSCP, staining with Sybr Green II and Sybr Green I, ethidium bromide, no digestion with RFLP (BstX I), and digestion with plant nuclease. We used this method for examination of polymorphisms of catalase exon 9 in microcytic anemia and beta-thalassemia patients. The lowest blood catalase activities were detected in microcytic anemia and beta-thalassemia patients with the TT genotypes of the C111T polymorphism. This method was sensitive for detection of G113A acatalasemia mutation, but poorly detected C37T and G5A acatalasemia mutations.
Tárgyszavak:	Természettudományok Kémiai tudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Archives of Biochemistry and Biophysics 525 : 2 (2012), p. 201-206. -
További szerzők:	Csordás Melinda Kósa Zsuzsanna Góth László (1943-) (analitikus)
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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