Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17
dc.contributor.author | Diehl, Scott R. | en_US |
dc.contributor.author | Boehnke, Michael | en_US |
dc.contributor.author | Erickson, Robert P. | en_US |
dc.contributor.author | Baxter, A. B. | en_US |
dc.contributor.author | Bruce, M. A. | en_US |
dc.contributor.author | Lieberman, J. L. | en_US |
dc.contributor.author | Platt, D. J. | en_US |
dc.contributor.author | Ploughman, L. M. | en_US |
dc.contributor.author | Seiler, K. A. | en_US |
dc.contributor.author | Sweet, Ann M. | en_US |
dc.contributor.author | Collins, Francis S. | en_US |
dc.date.accessioned | 2006-04-07T19:45:13Z | |
dc.date.available | 2006-04-07T19:45:13Z | |
dc.date.issued | 1987-12 | en_US |
dc.identifier.citation | Diehl, S. R., Boehnke, M., Erickson, R. P., Baxter, A. B., Bruce, M. A., Lieberman, J. L., Platt, D. J., Ploughman, L. M., Seiler, K. A., Sweet, A. M., Collins, F. S. (1987/12)."Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17." Genomics 1(4): 361-363. <http://hdl.handle.net/2027.42/26488> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WG1-4DXK9Y3-1G/2/59ebe9b442f734ca0a0594361d1cb81d | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/26488 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2896631&dopt=citation | en_US |
dc.description.abstract | Several recent studies indicate that the von Recklinghausen neurofibromatosis (NF1) gene is located near the centromere of chromosome 17 in some families. However, variable expressivity and a very high mutation rate suggest that defects at several different loci could result in phenotypes categorized as NF1. In order to assess this possibility and to map the NF1 gene more precisely, we have used two polymorphic DNA markers from chromosome 17 to screen several pedigrees for linkage to NF1. We ascertained a large Caucasian pedigree (33 individuals sampled, 17 NF1 affected) as well as eight smaller pedigrees and nuclear families (50 individuals sampled, 30 NF1 affected). Here, we report strong evidence of linkage of NF1 to the centromeric marker D17Z1 (maximum LOD = 4.42) and a weaker suggestion of linkage to the ERBA1 oncogene (maximum LOD = 0.57), both at a recombination fraction of zero. Since obligate crossovers with NF1 were not observed for either marker in any of the informative families tested, the possibility of NF1 locus heterogeneity is not supported. | en_US |
dc.format.extent | 279904 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Elsevier | en_US |
dc.title | Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17 | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA | en_US |
dc.contributor.affiliationum | Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA | en_US |
dc.contributor.affiliationum | Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA. | en_US |
dc.identifier.pmid | 2896631 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/26488/1/0000024.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1016/0888-7543(87)90039-5 | en_US |
dc.identifier.source | Genomics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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