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

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)....

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Bibliographic Details
Published in:Neurogenetics 2004-09, Vol.5 (3), p.197-200
Main Authors: KOK, Cindy, KENNERSON, Marina L, MYERS, Simon J, NICHOLSON, Garth A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Brain - metabolism
Chromosome Mapping
Chromosomes, Human, Pair 3
Computational Biology
Cough - genetics
DNA Mutational Analysis
Esophagus
Exons
Gastroenterology. Liver. Pancreas. Abdomen
Gastroesophageal Reflux - genetics
General aspects. Genetic counseling
Genetic Linkage
Genetic Markers
Genetic research
Genome, Human
Hereditary Sensory and Motor Neuropathy - genetics
Humans
Medical genetics
Medical sciences
Models, Genetic
Neurological disorders
Neurons - metabolism
Other diseases. Semiology
Physical Chromosome Mapping
Pneumology
Polymerase Chain Reaction
Polymorphism
Polymorphism, Single Nucleotide
Respiratory system : syndromes and miscellaneous diseases
Reverse Transcriptase Polymerase Chain Reaction
RNA, Messenger - metabolism
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Summary: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.
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-004-0185-0