Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes

Cindy Kok*, Marina L. Kennerson, Simon J. Myers, Garth A. Nicholson

*Corresponding author for this work

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Dominantly inherited sensory neuropathy (HSNI) is a degenerative disorder of sensory neurons characterized predominantly by sensory loss with mild motor impairment. Recently our group identified a locus on chromosome 3p for a new form of HSNI associated with cough and gastroesophageal reflux (GER). Haplotype analysis in a second family refined the interval to a 3.4-cM region that includes the candidate genes TOP2B and SLC4A7. The genes TOP2B and SLC4A7 and five other characterized genes that map within the critical interval have been investigated and excluded from having a pathogenic role in HSNI with cough and GER. Two novel single nucleotide polymorphisms were identified; however both changes were observed in affected and non-affected individuals, suggesting that they have no relation to the disease. We have used the resources of the Human Genome Project to report a transcript map of the region on chromosome 3p24 containing the HSNI with cough and GER locus.

Original languageEnglish
Pages (from-to)197-200
Number of pages4
JournalNeurogenetics
Volume5
Issue number3
DOIs
Publication statusPublished - Sep 2004
Externally publishedYes

Keywords

  • Cough
  • Gastroesophageal reflux
  • Genes
  • HSNI
  • Transcript map 3p

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