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 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.
van Schothorst
E M
EM
MGC Department of Human Genetics, Leiden University, The Netherlands.
Jansen
J C
JC
Bardoel
A F
AF
van der Mey
A G
AG
James
M J
MJ
Sobol
H
H
Weissenbach
J
J
van Ommen
G J
GJ
Cornelisse
C J
CJ
Devilee
P
P
D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D018392:Genomic Imprinting; D006239:Haplotypes; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D010235:Paraganglioma / Q000235:genetics*
D019006:Neural Cell Adhesion Molecules