Abstract
Paragangliomas of the head and neck region, also known as glomus tumours, are mostly benign tumours of neuro-ectodermal origin. We mapped the familial form by linkage analysis in 6 families to chromosome region 1 1q22–q23, between the markers STMY and CD3D which currently span a 16-cM interval. Here, we performed detailed haplotype analysis of this region in a single Dutch multibranch 7-generation family. A region of 2 cM between the markers D11S938/D11S4122 and D11S1885 was shared between all patients of whom disease haplotypes could be reconstructed. In support of this localization, a recombination observed in a small French family with 2 affected nieces places the PGL gene proximal to marker D11S908, genetically coincident with D11S1885.
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Acknowledgements
We thank all family members for their cooperation. We thank Dr. M. Schlumberger (Institut Gustave-Roussy, Villejuif, France) for referring family FGT21 and Dr. L. Sandkuijl for his statistical advice. This work was supported by the Dutch Organisation for Scientific Research (NWO 900-715-816) and the Dutch Cancer Society (KWF 93-537).
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van Schothorst, E.M., Jansen, J.C., Bardoel, A.F.J. et al. Confinement of PGL, an Imprinted Gene Causing Hereditary Paragangliomas, to a 2-cM Interval on 11q22–q23 and Exclusion of DRD2 and NCAM as Candidate Genes. Eur J Hum Genet 4, 267–273 (1996). https://doi.org/10.1159/000472213
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DOI: https://doi.org/10.1159/000472213
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