A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24 |
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Authors: | Kok C Kennerson M L Spring P J Ing A J Pollard J D Nicholson G A |
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Institution: | Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, Sydney, Australia. ckok@anzac.edu.au |
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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. |
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