Evidence for reduced recombination on the nondisjoined chromosomes 21 in down syndrome

Andrew C. Warren, Aravinda Chakravarti, Corinne Wong, Susan A. Slaugenhaupt, Susan L. Halloran, Paul C. Watkins, Caterina Metaxotou, Stylianos E. Antonarakis

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Abstract

Trisomy 21 usually results from nondisjunction during meiosis I. In order to determine whether nondisjunction results from failure of normal chromosome pairing or premature impairing, recombination frequencies were estimated between DNA polymorphic markers on the long arm of chromosome 21 in families containing one individual with trisomy 21. The recombination frequencies on chromosomes 21 that had undergone nondisjunction were then compared to those on chromosomes 21 that had disjoined normally. The data indicate that recombination is reduced between DNA markers on nondisjoined chromosomes 21. These results are consistent with the hypothesis that reduced chiasma formation predisposes to nondisjunction, resulting in trisomy 21 in humans.

Original languageEnglish (US)
Pages (from-to)652-654
Number of pages3
JournalScience
Volume237
Issue number4815
DOIs
StatePublished - Jan 1 1987

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Warren, A. C., Chakravarti, A., Wong, C., Slaugenhaupt, S. A., Halloran, S. L., Watkins, P. C., Metaxotou, C., & Antonarakis, S. E. (1987). Evidence for reduced recombination on the nondisjoined chromosomes 21 in down syndrome. Science, 237(4815), 652-654. https://doi.org/10.1126/science.2955519