Naslov
Down syndrome: Parental origin, recombination, and maternal age

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

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
7th ISAB conference in forensic, anthropologic and medical genetics and Mayo clinic lectures in translational medicine / - Zagreb : International Society for Applied Biological Sciences (ISABS), 2011, 275-275

Skup
Fifth Croatian Human Genetics Conference

Mjesto i datum
Bol, otok Brač, hrvatska, 2011

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Domaća recenzija

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

Sažetak
The aims of the present study were to assess (i) the parental origin of trisomy 21 and the stage in which 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

POVEZANOST RADA