title: Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).
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.
authors.affiliation: Department of Pediatrics, University of Iowa Hospitals, Iowa City 52242.
authors.forename: K A
authors.initials: KA
authors.lastname: Mills
authors.forename: K H
authors.initials: KH
authors.lastname: Buetow
authors.forename: Y
authors.initials: Y
authors.lastname: Xu
authors.forename: T M
authors.initials: TM
authors.lastname: Ritty
authors.forename: K D
authors.initials: KD
authors.lastname: Mathews
authors.forename: S E
authors.initials: SE
authors.lastname: Bodrug
authors.forename: C
authors.initials: C
authors.lastname: Wijmenga
authors.forename: I
authors.initials: I
authors.lastname: Balazs
authors.forename: J C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D004277:DNA, Single-Stranded; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D004277:DNA, Single-Stranded; D005819:Genetic Markers