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Am J Hum Genet. 1998 Aug;63(2):468-73.

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

Author information

1
Department of Human Genetics, Leiden University Medical Center, Leiden, 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.

PMID:
9683583
PMCID:
PMC1377293
DOI:
10.1086/301951
[Indexed for MEDLINE]
Free PMC Article

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