QF-PCR Examination of Parental and Meiotic Origin of Trisomy 21 in Central and Eastern Europe

Machatková, M; Brouckova, Martina; Matějčková, Milada; Krebsová, Alice; Sperling, Karl; Sg, Vorsanova; Куцев, С. И.; Zerova, Tatiana; Arbuzova, Svetlana; Krejčí, Roman; Petersen, Michael B.; Maçek, Milan

doi:10.1369/jhc.4b6510.2005

Cited by 9 publications

(5 citation statements)

References 9 publications

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“…Our findings confirm the model for DS origin found in other populations (Antonarakis, 1991;Gó mez et al, 2000;Petersen and Mikkelsen, 2000;Machatkova et al, 2005;Freeman et al, 2007;Ramírez et al, 2007;Ghosh et al, 2010). The obtained frequencies of maternal MIderived (86%) and MII-derived (14%) trisomy 21 were different from the study reported by Freeman et al (2007), but similar to the studies on Mediterranean and Eastern Europe populations (Gó mez et al, 2000;Machatkova et al, 2005). The discrepancy was probably due to both the small sample size and maternal age distribution covered by the study.…”

Section: Discussionsupporting

confidence: 91%

Down Syndrome: Parental Origin, Recombination, and Maternal Age

Vraneković

Božović²,

Grubić³

et al. 2012

Genetic Testing and Molecular Biomarkers

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The aims of the present study were to assess (1) the parental origin of trisomy 21 and the stage in which nondisjunction occurs and (2) 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 polymerase chain reaction using 11 short tandem repeat 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 (MI) 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.

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Section: Discussionsupporting

confidence: 91%

Down Syndrome: Parental Origin, Recombination, and Maternal Age

Vraneković

Božović²,

Grubić³

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…The post zygotic mitotic error was estimated about 2%. Very concordant results were also reported for Ukraine and Russian cohorts (Machatkova et al 2005), and Spanish cohort (Gomez et al 2000). Little difference among these datasets that does exist is probably due to sampling variation.…”

Section: Introductionsupporting

confidence: 76%

Etiology of Down Syndrome: Risk of Advanced Maternal Age and Altered Meiotic Recombination for Chromosome 21 Nondisjunction

Dey¹,

Ghosh²

2011

Genetics and Etiology of Down Syndrome

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“…We were curious whether this epidemiological pattern of DS birth in Indian cohort is similar to that of other ethnically different populations reported earlier. We compared our Indian dataset with those of US (Allen et al, 2009), Spanish (Go´mez et al, 2000), Ukraine and Russian cohorts (Machatkova et al, 2005), using Fisher's exact test. We did not obtain any significant difference in any pair-wise test for maternal :paternal ratio.…”

Section: Discussionmentioning

confidence: 99%

Chromosome 21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of incidence and aetiology from family linkage data

et al. 2010

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We analysed the family linkage data obtained from short tandem repeat (STR) genotyping of 212 unrelated Indian families having a single Down syndrome (DS) baby each, in order to explore the incidence and aetiology of this human aneuploidy in our cohort. The estimated values of maternal meiotic I and meiotic II non-disjunction (NDJ) errors of chromosome 21 (Ch 21) were approximately 78 and approximately 22%, respectively. Within the paternal outcome group, about 47 and 53% were accounted for NDJ at meiosis I and meiosis II, respectively. We estimated only approximately 2% post-zygotic mitotic errors. The comparison of average age of conception between controls and DS-bearing mothers revealed a significant difference (P<0.001) with DS-bearing women were on an average older than controls and meiotic II non-disjoined mothers were oldest among meiotic outcome groups. Our linkage analysis suggested an overall reduction in recombination by more than 50% on meiotic I non-disjoined maternal Ch 21 with error prone to susceptible chiasma formation within the approximately 5.1 kbp segment near the telomeric end. We stratified meiotic I non-disjoined women in three age groups, viz. young (or=35 years) and found linear decrease in the frequency of achiasmate meiosis from the young to the old group. In contrary, a linear increase in the multiple chiasma frequency from the young to the old group was observed. Considering these results together, we propose that the risk factors for Ch 21 NDJ are of two types, one being 'maternal age-independent' and the other being 'maternal age-dependent'. Moreover, a comparison of our present Indian dataset with that of other published data of ethnically different populations suggested that the genetics that underlies the NDJ of Ch 21 is probably universal irrespective of racial difference across human populations. The present study is the first population-based report on any DS cohort from the Indian subcontinent and our work will help future workers in understanding better the aetiology of this birth defect.

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QF-PCR Examination of Parental and Meiotic Origin of Trisomy 21 in Central and Eastern Europe

Cited by 9 publications

References 9 publications

Down Syndrome: Parental Origin, Recombination, and Maternal Age

Down Syndrome: Parental Origin, Recombination, and Maternal Age

Etiology of Down Syndrome: Risk of Advanced Maternal Age and Altered Meiotic Recombination for Chromosome 21 Nondisjunction

Chromosome 21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of incidence and aetiology from family linkage data

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