title: Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes.
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.
authors.affiliation: Neurobiology Laboratory, ANZAC Research Institute, Hospital Road, Concord, New South Wales, Australia. ckok@anzac.edu.au
authors.forename: Cindy
authors.initials: C
authors.lastname: Kok
authors.forename: Marina L
authors.initials: ML
authors.lastname: Kennerson
authors.forename: Simon J
authors.initials: SJ
authors.lastname: Myers
authors.forename: Garth A
authors.initials: GA
authors.lastname: Nicholson
mesh_terms: D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D019295:Computational Biology; D003371:Cough / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005764:Gastroesophageal Reflux / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D015894:Genome, Human; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D009474:Neurons / Q000378:metabolism; D020161:Physical Chromosome Mapping; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers; D012333:RNA, Messenger