Journal article
Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD)
American journal of human genetics, Vol.51(2), pp.432-439
08/1992
PMCID: PMC1682692
PMID: 1642243
Abstract
We have used a combination of classical RFLPs and PCR-based polymorphisms including CA repeats and single-strand conformation polymorphisms to generate a fine-structure genetic map of the distal long arm of chromosome 4q. This map is now genetically linked to the pre-existing anchor map of 4pter-4q31 and generates, for the first time, a complete linkage map of this chromosome. The map consists of 32 anchor loci placed with odds of greater than 1,000:1. The high-resolution map in the cytogenetic region surrounding 4q35 provides the order 4cen-D4S171-F11-D4S187-D4S163-D4S139-4q ter. When we used somatic cell hybrids from a t(X;4)(p21;q35) translocation, these five markers fell into three groups consistent with the genetic map-D4S171 and F11 in 4pter-4q35, D4S163 and D4S139 in 4q35-4qter, and D4S187 as a junction fragment between these two regions. These markers are in tight linkage to the gene for facioscapulo-humeral muscular dystrophy (FSHD) mapped to this region by several collaborating investigators and provide a framework for further detailed analysis of this region.
Details
- Title: Subtitle
- Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD)
- Creators
- K A Mills - Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242K H Buetow - Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242Y Xu - Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242T M Ritty - Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242K D Mathews - Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242S E Bodrug - Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242C Wijmenga - Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242I Balazs - Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242J C Murray - Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.51(2), pp.432-439
- PMID
- 1642243
- PMCID
- PMC1682692
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 08/1992
- Academic Unit
- Neurology; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Pediatric Dentistry; Craniofacial Anomalies Research Center; Neurology (Pediatrics); Dental Research
- Record Identifier
- 9984020706402771
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