Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD)

K. A. Mills, K. H. Buetow, Y. Xu, T. M. Ritty, K. D. Mathews, S. E. Bodrug, C. Wijmenga, I. Balazs, J. C. Murray

Research output: Contribution to journalArticle

33 Scopus citations

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-D4S139-4qter. 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 facioscapulohumeral muscular dystrophy (FSHD) mapped to this region by several collaborating investigators and provide a framework for further detailed analysis of this region.

Original languageEnglish (US)
Pages (from-to)432-439
Number of pages8
JournalAmerican Journal of Human Genetics
Volume51
Issue number2
StatePublished - Jan 1 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Mills, K. A., Buetow, K. H., Xu, Y., Ritty, T. M., Mathews, K. D., Bodrug, S. E., Wijmenga, C., Balazs, I., & Murray, J. C. (1992). Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD). American Journal of Human Genetics, 51(2), 432-439.