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. 1998 Aug;63(2):468–473. 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 1, E Grooters 1, D E Prins 1, J J Wiersinga 1, A G van der Mey 1, G J van Ommen 1, P Devilee 1, C J Cornelisse 1
PMCID: PMC1377293  PMID: 9683583

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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Selected References

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