Article
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction.
Human genetics - 1 Sept 2012
Borel Christelle, Cheung Fanny, Stewart Helen, Koolen David A, Phillips Christopher, Thomas N Simon, Jacobs Patricia A, Eliez Stephan, Sharp Andrew J
Abstract excerpt
Recent studies have identified PRDM9, a zinc finger (ZF) protein, as a key regulator of meiotic recombination. As both recurrent genomic disorders and chromosomal non-disjunction are known to be associated with specific unusual patterns of recombination, we hypothesized a possible link between PRDM9 ZF variation and susceptibility to microdeletion syndromes and/or trisomy. We sequenced the PRDM9 ZF domain in 271...
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