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dc.contributor.authorCorman, B
dc.contributor.authorAvela, K
dc.contributor.authorPihko, H
dc.contributor.authorSantavuori, P
dc.contributor.authorTalim, B
dc.contributor.authorTopaloglu, H
dc.contributor.authorde la Chapelle, A
dc.contributor.authorLehesjoki, AE
dc.date.accessioned2019-12-10T10:34:44Z
dc.date.available2019-12-10T10:34:44Z
dc.date.issued1999
dc.identifier.issn0002-9297
dc.identifier.urihttps://doi.org/10.1086/302206
dc.identifier.urihttp://hdl.handle.net/11655/13793
dc.description.abstractMuscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type neuronal migration disorder of the brain. A similar combination of muscle and brain involvement is also seen in Walker-Warburg syndrome (WWS) and Fukuyama congenital muscular dystrophy (FCMD). Whereas the gene underlying FCMD has been mapped and cloned, the genetic location of the WWS gene is still unknown. Here we report the assignment of the MEB gene to chromosome 1p32-p34 by linkage analysis and homozygosity mapping in eight families with 12 affected individuals. After a genomewide search for linkage in four affected sib pairs had pinpointed the assignment to Ip, the MEB locus was more precisely assigned to a 9-cM interval flanked by markers D1S200 proximally and D1S211 distally. Multipoint linkage analysis gave a maximum LOD score of 6.17 at locus D1S2677. These findings provide a starting point for the positional cloning of the disease gene, which may play an important role in muscle function and brain development. It also provides an opportunity to test other congenital muscular dystrophy phenotypes, in particular WWS, for linkage to the same locus.
dc.language.isoen
dc.publisherUniv Chicago Press
dc.relation.isversionof10.1086/302206
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetics & Heredity
dc.titleAssignment of the Muscle-Eye-Brain Disease Gene to 1P32-P34 by Linkage Analysis and Homozygosity Mapping
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalAmerican Journal Of Human Genetics
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume64
dc.identifier.issue1
dc.identifier.startpage126
dc.identifier.endpage135
dc.description.indexWoS
dc.description.indexScopus


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