Down syndrome: Parental origin, recombination, and maternal age (CROSBI ID 573766)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | domaća recenzija
Podaci o odgovornosti
Vraneković, Jadranka ; Babić Božović, Ivana ; Grubić, Zorana ; Wagner, Jasenka ; Pavlinić, Dinko ; Dahoun, Sophie ; Bena, Frédérique ; Čulić, Vida ; Brajenović-Milić, Bojana
engleski
Down syndrome: Parental origin, recombination, and maternal age
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.
Down syndrome; genetic recombination; maternal age; meiotic nondisjunction
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Podaci o prilogu
275-275.
2011.
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objavljeno
Podaci o matičnoj publikaciji
7th ISAB conference in forensic, anthropologic and medical genetics and Mayo clinic lectures in translational medicine
Zagreb: International Society for Applied Biological Sciences (ISABS)
Podaci o skupu
Fifth Croatian Human Genetics Conference
predavanje
01.01.2011-01.01.2011
Bol, otok Brač, Hrvatska