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001-es BibID:BIBFORM054139
Első szerző:Bors András
Cím:Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary / András Bors, Hajnalka Andrikovics, Lajos Kalmár, Noémi Erdei, Sándor Galambos, András Losonczi, Sándor Füredi, István Balogh, Csaba Szalai, Attila Tordai
Dátum:2004
ISSN:1107-3756
Megjegyzések:The most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the gene GJB2, encoding the protein connexin 26 (Cx26). The mutation c.35delG is found in 30-70% of Caucasian NSRD cases, and is abundant (allele frequency of 0.5-2%) in several European populations, while c.167delT is found in the Ashkenazi Jewish population with about 2% frequency. In the current study, using simple PCR-based tests we established an allele frequency of 0.6% in the Hungarian average, and 0.4% in the Romani (Gypsy) populations for the c.35delG mutation, and an allele frequency of 2.4% in the Ashkenazi population for the c.167delT mutation. Our results do not differ significantly from the published data for Caucasian and non-European Ashkenazi populations and they present figures for the Romani population for the first time. Both mutations may be significant causative factors among the NSRD cases of the respective populations in Central Europe.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:International Journal of Molecular Medicine. - 14 : 6 (2004), p. 1105-1108. -
További szerzők:Andrikovics Hajnalka Kalmár Lajos Erdei Noémi Galambos Sándor Losonczi András Füredi Sándor Balogh István (1972-) (molekuláris biológus, genetikus) Szalai Csaba Tordai Attila
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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2.

001-es BibID:BIBFORM020428
Első szerző:Egyed Balázs
Cím:Analysis of the population heterogeneity in Hungary using fifteen forensically informative STR markers / Balazs Egyed, Sandor Füredi, Miklos Angyal, Istvan Balogh, Lajos Kalmar, Zsolt Padar
Dátum:2006
ISSN:0379-0738
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Forensic Science International. - 158 : 2-3 (2006), p. 244-249. -
További szerzők:Füredi Sándor Angyal Miklós Balogh István (1972-) (molekuláris biológus, genetikus) Kalmár Lajos Padar Zsolt
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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3.

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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