Abstract
Chromosome 21 nondisjunction in oocytes is the most common cause of trisomy 21, the primary chromosomal abnormality responsible for Down syndrome (DS). This specific type of error is estimated to account for over 90 % of live births with DS, with maternal age being the best known risk factor for chromosome 21 nondisjunction. The loss of telomere length and the concomitant shortening of chromosomes are considered a biological marker for aging. Thus, we tested the hypothesis that mothers who had a maternal nondisjunction error leading to a live birth with DS (n = 404) have shorter telomeres than mothers with live births without DS (n = 42). In effect, our hypothesis suggests that mothers of children with DS will appear “biologically older” as compared to the mothers of euploid children. We applied a quantitative PCR assay to measure the genome-wide relative telomere length to test this hypothesis. The results of our study support the hypothesis that young mothers of DS babies are “biologically older” than mothers of euploid babies in the same age group and supports telomere length as a biomarker of age and hence risk for chromosome nondisjunction.
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Acknowledgments
We would like to thank all the participants who made this study possible, along with those who helped with recruitment and data collection. This work was supported by the National Institutes of Health R01 HD38979.
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Albizua, I., Rambo-Martin, B.L., Allen, E.G. et al. Association between telomere length and chromosome 21 nondisjunction in the oocyte. Hum Genet 134, 1263–1270 (2015). https://doi.org/10.1007/s00439-015-1603-0
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DOI: https://doi.org/10.1007/s00439-015-1603-0