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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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