PMID: 8946172Jan 1, 1996Paper

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

European Journal of Human Genetics : EJHG
E M van SchothorstP Devilee

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 11q22-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.

Citations

Aug 14, 1999·Journal of Internal Medicine·M LemaireJ F De Plaen
Jul 13, 2000·The Laryngoscope·A E PetropoulosB E Baysal
Sep 8, 2019·Journal of Medical Genetics·Jean Pierre BayleyHartmut P H Neumann
Oct 17, 2002·Annals of the New York Academy of Sciences·McClellan M Walther
Jul 21, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Bora E Baysal
Jan 20, 1999·Molecular Pathology : MP·J A Joyce, P N Schofield
Aug 14, 2009·Genetic Epidemiology·Ji-Yuan ZhouShili Lin
Oct 17, 2006·American Journal of Medical Genetics. Part a·Kazumi OgawaAkira Horii

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