Assessment of transmission distortion on chromosome 6p in healthy individuals using tagSNPs View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-09

AUTHORS

Pablo Sandro Carvalho Santos, Johannes Höhne, Peter Schlattmann, Inke R König, Andreas Ziegler, Barbara Uchanska-Ziegler, Andreas Ziegler

ABSTRACT

The best-documented example for transmission distortion (TD) to normal offspring are the t haplotypes on mouse chromosome 17. In healthy humans, TD has been described for whole chromosomes and for particular loci, but multiple comparisons have presented a statistical obstacle in wide-ranging analyses. Here we provide six high-resolution TD maps of the short arm of human chromosome 6 (Hsa6p), based on single-nucleotide polymorphism (SNP) data from 60 trio families belonging to two ethnicities that are available through the International HapMap Project. We tested all approximately 70,000 previously genotyped SNPs within Hsa6p by the transmission disequilibrium test. TagSNP selection followed by permutation testing was performed to adjust for multiple testing. A statistically significant evidence for TD was observed among male parents of European ancestry, due to strong and wide-ranging skewed segregation in a 730 kb long region containing the transcription factor-encoding genes SUPT3H and RUNX2, as well as the microRNA locus MIRN586. We also observed that this chromosomal segment coincides with pronounced linkage disequilibrium (LD), suggesting a relationship between TD and LD. The fact that TD may be taking place in samples not selected for a genetic disease implies that linkage studies must be assessed with particular caution in chromosomal segments with evidence of TD. More... »

PAGES

1182

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ejhg.2009.16

    DOI

    http://dx.doi.org/10.1038/ejhg.2009.16

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1036421851

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/19259136


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