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Pregled bibliografske jedinice broj: 528794

Down Syndrome: Parental Origin, Recombination, and Maternal Age


Vraneković, Jadranka; Babić Božović, Ivana; Grubić, Zorana; Wagner, Jasenka; Dahoun, Sophie; Bena, Frederique; Čulić, Vida; Brajenović-Milić, Bojana
Down Syndrome: Parental Origin, Recombination, and Maternal Age // Genetic Testing and Molecular Biomarkers, 16 (2012), 1; 70-73 doi:10.1089/gtmb.2011.0066. (međunarodna recenzija, članak, znanstveni)


Naslov
Down Syndrome: Parental Origin, Recombination, and Maternal Age

Autori
Vraneković, Jadranka ; Babić Božović, Ivana ; Grubić, Zorana ; Wagner, Jasenka ; Dahoun, Sophie ; Bena, Frederique ; Čulić, Vida ; Brajenović-Milić, Bojana

Izvornik
Genetic Testing and Molecular Biomarkers (1945-0265) 16 (2012), 1; 70-73

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Down syndrome; genetic recombination; maternal age; meiotic nondisjunction

Sažetak
The aims of the present study were to asses (i) the parental origin of trisomy 21 and the stage that nondisjunction occurs and (ii) the relationship between altered genetic recombination and maternal age as risk factors for trisomy 21. The study included 102 cases with Down syndrome from the Croatian population. Genotyping analyses were performed by PCR using 11 STR markers along chromosome 21q. The vast majority of trisomy 21 was of maternal origin (93%), followed by paternal (5%), and mitotic origin (2%). The frequencies of maternal meiotic I and meiotic II errors were 86% and 14%, respectively. The highest proportion of cases with zero recombination was observed among those with maternal MI derived trisomy 21. A higher proportion of telomeric exchanges were presented in cases with maternal MI errors and cases with young mothers, although these findings were not statistically significant. The present study is the first report examining parental origin and altered genetic recombination as a risk factor for trisomy 21 in a Croatian population. The results support that trisomy 21 has a universal genetic etiology across different human populations.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
062-0000000-1349 - Prenatalni probir za sindrom Downov (Bojana Brajenović-Milić, )
098-0982464-2394 - Gensko liječenje tumora djelovanjem na molekule imunološkog sustava (Jasminka Pavelić, )

Ustanove
Medicinski fakultet, Rijeka,
Institut "Ruđer Bošković", Zagreb

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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