Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families

Watts, Giles D J, O'Briant, Kathy C and Chance, Phillip F (2002) Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families. Human Genetics, 110 (2). pp. 166-72. ISSN 0340-6717

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Abstract

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that is associated with episodic recurrent brachial plexus neuropathy. A mutation for HNA maps to chromosome 17q25. To refine the HNA locus further, we carried out genetic linkage studies in seven pedigrees with a high density set of DNA markers from chromosome 17q25. All pedigrees demonstrated linkage to chromosome 17q25, and an analysis of recombinant events placed the HNA locus within an interval of approximately 1 Mb flanked by markers D17S722 and D17S802. In order to test the power of linkage disequilibrium mapping, we compared genotypes of 12 markers from seven pedigrees that were from the United States and that showed linkage to chromosome 17q25. The haplotypes identified a founder effect in six of the seven pedigrees with a minimal shared haplotype that further refines the HNA locus to an interval of approximately 500 kb. These findings suggest that, for the pedigrees from the United States, there are at least two different mutations in the HNA gene.

Item Type:	Article
Uncontrolled Keywords:	alleles,brachial plexus neuritis,chromosome mapping,chromosomes, human, pair 17,female,founder effect,genetic markers,humans,lod score,male,pedigree,recombination, genetic,united states
Faculty \ School:	Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups:	Faculty of Medicine and Health Sciences > Research Groups > Musculoskeletal Medicine
Depositing User:	Pure Connector
Date Deposited:	27 Jan 2014 13:24
Last Modified:	24 Oct 2022 05:50
URI:	https://ueaeprints.uea.ac.uk/id/eprint/46870
DOI:	10.1007/s00439-001-0647-5

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