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

Paragangliomas of the head and neck region, also known as glomus tumou rs, are mostly benign tumours of neuro-ectodermal origin. We mapped th e familial form by linkage analysis in 6 families to chromosome region 11q22-q23, between the markers STMY and CD3D which currently span a 1 6-cM intel-val. 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 bet ween all patients of whom disease haplotypes could be reconstructed, I n support of this localization, a recombination observed in a small Fr ench family with 2 affected nieces places the PGL gene proximal to mar ker D11S908, genetically coincident with D11S1885.