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Biomédica

versão impressa ISSN 0120-4157

Resumo

NELSON JAVIER, Ramírez et al. Parental origin, nondisjunction, and recombination of the extra chromosome 21 in Down syndrome: a study in a sample of the Colombian population. Biomédica [online]. 2007, vol.27, n.1, pp.141-148. ISSN 0120-4157.

Introduction. Free trisomy 21 is responsible for 95% of Down syndrome cases. Advanced maternal age and susceptible recombination patterns are recognized risk factors associated to Down syndrome. Maternal origin of trisomy occurs in approximately 90% of cases; paternal and mitotic origin share the remaining 10%. However, the recombination events that serve as a risk factors for trisomy 21 have not been carefully characterized. Objective. To analyze and validate observations in a sample of Colombian trysonomy 21 cases. Materials and methods. Twenty-two Colombian families were selected, each with one affected Down syndrome (free trisomy 21) child. Microsatellite polymorphisms were used as DNA markers to determine the parental/stage origin of non-disjunction and recombination events. Non-parametric tests were used to compare our results with those reported. Multiple correspondence analysis was used to outline different groups and their associations. Results. Distribution of trisomy 21 was 90.9% maternal, 4.5% paternal and 4.5% from mitotic origin, similar to distributions reported previously. However, we found differences in the frequency of maternal meiotic stage errors between the present study (46.1% meiosis I and 53.9% meiosis II) compared to those reported previously (70% meiosis I and 30% meiosis II). Multiple correspondence analyses showed association of either local recombination events or absence of recombination with specific non-disjunction stages. Conclusions. Recombination patterns found in this study support the hypothesis that susceptible chiasmate configurations are associated to maternal meiosis I and meiosis II errors. Non-disjunction frequencies between maternal meiotic stages need to be clarified in our population.

Palavras-chave : Down syndrome; nondisjunction; genetic; trisomy; meiosis; recombination; genetic; microsatellite repeats; síndrome de Down; no disyunción genética; trisomía; meiosis; recombinación genética; repeticiones de microsatélite..

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