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Framework multipoint map of the long arm of human Chromosome 4 and telomeric localization of the gene for FSHD |
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| Authors: | Barbara Weiffenbach Rebecca G. Bagley Kathleen Falls JoAnn Dubois Craig Hyser Diane Storvick Paul Schultz Jerry R. Mendell Eric C. B. Millner Stephen J. Jacobsen Robert C. Griggs |
| Affiliation: | (1) Collaborative Research, Inc., 1365 Main Street, 02154 Waltham, Massachusetts, USA;(2) Department of Neurology, University of Rochester, 14642 Rochester, New York, USA;(3) Department of Neurosciences, University of California, San Diego, 92093 La Jolla, California, USA;(4) Department of Neurology, Ohio State University, 43210 Columbus, Ohio, USA;(5) Virginia Mason Research Center, 98101 Seattle, Washington, USA;(6) Department of Pediatrics, University of California, San Diego, 92093 La Jolla, California, USA |
| Abstract: | Mapping the long arm of Chromosome (Chr) 4 has assumed medical relevance with the establishment of linkage of facioscapulohumeral muscular dystrophy (FSHD) to distal 4q markers. We have constructed a multipoint linkage map using DNA markers that map to the long arm of Chr 4. Segregation data were collected for 17 DNA markers on the multigenerational CEPH mapping families, and data for one marker were taken from the published CEPH database. Genotypic information for six of these markers was also collected from a set of 24 families that exhibited inheritance of FSHD. Multipoint analyses allowed us to construct a map of 12 loci, connecting two previously separate linkage groups. Significant sexspecific differences in recombination were found for some genetic intervals. Four loci from the distal region of this map showed linkage with FSHD. A map using these terminal markers gave the strongest support for FSHD in the most distal position over all other possible positions.Offprint requests to: B. Weiffenbach |
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