1. A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.
- Author
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Kok C, Kennerson ML, Spring PJ, Ing AJ, Pollard JD, and Nicholson GA
- Subjects
- Chromosome Mapping, Cough complications, Female, Gastroesophageal Reflux complications, Hereditary Sensory and Autonomic Neuropathies complications, Humans, Male, Pedigree, Chromosomes, Human, Pair 3, Cough genetics, Gastroesophageal Reflux genetics, Hereditary Sensory and Autonomic Neuropathies genetics
- Abstract
Hereditary sensory neuropathy type I (HSN I) is a group of dominantly inherited degenerative disorders of peripheral nerve in which sensory features are more prominent than motor involvement. We have described a new form of HSN I that is associated with cough and gastroesophageal reflux. To map the chromosomal location of the gene causing the disorder, a 10-cM genome screen was undertaken in a large Australian family. Two-point analysis showed linkage to chromosome 3p22-p24 (Zmax=3.51 at recombination fraction (theta) 0.0 for marker D3S2338). A second family with a similar phenotype shares a different disease haplotype but segregates at the same locus. Extended haplotype analysis has refined the region to a 3.42-cM interval, flanked by markers D3S2336 and D3S1266.
- Published
- 2003
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