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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Bouchard, J. P. Andermann, F. Andermann, E. Casaubon, L. K. Lopes-Cendes, I. Weissenbach, J. Prévost, C. Melanson, M. Marineau, C. Mathieu, J. Rouleau, G. A. |
| Description | Country affiliation: Canada Author Affiliation: Casaubon LK ( Centre for Research in Neuroscience, Montreal General Hospital Research Institute, Quebec, Canada.) |
| Abstract | Peripheral neuropathy with or without agenesis of the corpus callosum (ACCPN) is a devastating neurodegenerative disorder that is transmitted as an autosomal recessive trait. Genealogical studies in a large number of affected French Canadian individuals suggest that ACCPN results from a single founder mutation. A genomewide search using 120 microsatellite DNA markers in 14 French Canadian families allowed the mapping of the ACCPN gene to a 5-cM region on chromosome 15q13-q15 that is flanked by markers D15S1040 and D15S118. A maximum two-point LOD score of 11.1 was obtained with the marker D15S971 at a recombination fraction of 0. Haplotype analysis and linkage disequilibrium support a founder effect. These findings are the first step in the identification of the gene responsible for ACCPN, which may shed some light on the numerous conditions associated with the progressive peripheral neuropathy or agenesis of the corpus callosum. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 1 |
| Volume Number | 58 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1996-01-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Agenesis Of Corpus Callosum Chromosomes, Human, Pair 15 Peripheral Nervous System Diseases Genetics Chromosome Mapping Genetic Linkage Genetic Markers Lod Score Pedigree Recombination, Genetic Reference Values Syndrome Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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