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

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.

SUBMITTER: van Schothorst EM

PROVIDER: S-EPMC1377293 | biostudies-other | 1998 Aug

REPOSITORIES: biostudies-other

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

van Schothorst E M EM Jansen J C JC Grooters E E Prins D E DE Wiersinga J J JJ van der Mey A G AG van Ommen G J GJ Devilee P P Cornelisse C J CJ

American journal of human genetics 19980801 2

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 con ...[more]

PMID: 9683583

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