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. 1998 Aug;63(2):468-73.
doi: 10.1086/301951.

Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands

E M van Schothorst  1 , J C Jansen, E Grooters, D E Prins, J J Wiersinga, A G van der Mey, G J van Ommen, P Devilee, C J Cornelisse
Affiliations

Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands

E M van Schothorst et al. Am J Hum Genet. 1998 Aug.

Abstract

PGL1, a gene responsible for hereditary paragangliomas of the head and neck, recently was mapped to a 2-cM interval on chromosome 11q22-q23, by linkage and haplotype-sharing analysis of a large multibranch Dutch family. We determined the disease-linked haplotype, as defined by 13 markers encompassing a large interval on 11q21-q23, in 10 additional families ascertained from the same geographical locale. Alleles were identical for six contiguous markers, spanning a genetic distance of 6 cM and containing PGL1. Despite this strong indication of a common ancestor, no kinships between the families could be demonstrated through genealogical surveys going back to 1800 a.d. We conclude that a single ancestral mutation is responsible for most, if not all, hereditary paragangliomas, in this region of The Netherlands, and that strong founder effects may exist at the PGL1 locus.

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