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001-es BibID:	BIBFORM054140
Első szerző:	Hunter, Michael
Cím:	The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe / Michael Hunter, Evelyne Heyer, Frederic Austerlitz, Dora Angelicheva, Vania Nedkova, Paz Briones, Anna Gata, Rosario De Pablo, Aranka László, Nils Bosshard, Richard Gitzelmann, Attila Tordai, Lajos Kalmar, Csaba Szalai, Istvan Balogh, Constantin Lupu, Axinia Corches, Gabriela Popa, Anna Perez-Lezaun, Luba V. Kalaydjieva
Dátum:	2002
ISSN:	0031-3998
Megjegyzések:	Galactokinase deficiency is an inborn error of metabolismthat, if untreated, results in the development of cataracts in thefirst weeks of life. The disorder is rare worldwide, but has a highincidence among the Roma (Gypsies). In 1999, we reported thefounder Romani mutation, P28T, identified in affected familiesfrom Bulgaria. Subsequent studies have detected the same mutationin Romani patients from different European countries. Thescreening of 803 unrelated control individuals of Romani ethnicityfrom Bulgaria, Hungary, and Spain has shown an overallcarrier rate of 1:47 and an expected incidence of affected birthsabout 1:10,000. Using disease haplotype analysis, the age of theP28T mutation was estimated at 750 y, preceding the splits of theproto-Roma into the numerous populations resident in Europetoday. The findings suggest that the mutation has spread with theearly diaspora of the Roma throughout Europe. Superimposed onthis old distribution pattern is the new migration wave of the lastdecade, with large numbers of Roma moving to Western Europeas a result of the economic changes in the East and the wars informer Yugoslavia. The changing demographic pattern of Romaniminorities can be expected to lead to a homogenization ofthe incidence of "private" Romani disorders and founder mutations.The P28T mutation is thus likely to account for a highproportion of galactokinase deficiency cases across Europe. Mutation-based pilot newborn screening programs would providecurrent incidence figures and help to design long-term preventionof infantile cataracts due to galactokinase deficiency.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Pediatric Research. - 51 : 5 (2002), p. 602-606. -
További szerzők:	Heyer, Evelyne Austerlitz, Frederic Angelicheva, Dora Nedkova, Vania Briones, Paz Gata, Anna Pablo, Rosario De László Aranka Bosshard, Nils Gitzelmann, Richard Tordai Attila Kalmár Lajos Szalai Csaba Balogh István (1972-) (molekuláris biológus, genetikus) Lupu, Constantin Corches, Axinia Popa, Gabriela Perez-Lezaun, Anna Kalaydjieva, Luba V.
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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