A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q

Stacle K. Loftus, Sara J. Edwards, Titia Scherpbier-Heddema, Kenneth Buetow, John J. Wasmuth, Michael J. Dixon

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

The distal region of chromosome 5q contains a large number of genes, including those implicated in a variety of Mendelian disorders. One of these, Treacher Collins syndrome (TCOF1), is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Previous studies have localized the TCOF1 locus between D5S519 (proximal) and SPARC (distal). To more accurately define the genetic distance between these markers, and to extend a high resolution genetic map of 5q31 - 33 to include additional highly informative markers, 15 loci (including polymorphisms for 4 known genes) were mapped through the Centre d'Etude du Polymorphisme Humain reference pedigrees. The resulting genetic map encompasses 29 cM on the sex-averaged map. To help integrate this linkage map with a physical map of the region, 13 loci from 5q31 - 33, including 6 genes, were used to construct a radiation hybrid map. As eight of the loci are common to both maps this has allowed us to combine the maps. The most likely location for the TCOF1 locus within this marker framework is in the D5S519-SPARC interval; a region estimated to be approximately 880 kb.

Original languageEnglish (US)
Pages (from-to)1785-1792
Number of pages8
JournalHuman Molecular Genetics
Volume2
Issue number11
StatePublished - Nov 1993
Externally publishedYes

Fingerprint

Mandibulofacial Dysostosis
Radiation Hybrid Mapping
Chromosomes
Chromosome
Locus
Radiation
Genes
Conductive Hearing Loss
Cleft Palate
Pedigree
Gene
Disorder
Audition
Polymorphism
Linkage
High Resolution
Likely
Integrate

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Loftus, S. K., Edwards, S. J., Scherpbier-Heddema, T., Buetow, K., Wasmuth, J. J., & Dixon, M. J. (1993). A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. Human Molecular Genetics, 2(11), 1785-1792.

A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. / Loftus, Stacle K.; Edwards, Sara J.; Scherpbier-Heddema, Titia; Buetow, Kenneth; Wasmuth, John J.; Dixon, Michael J.

In: Human Molecular Genetics, Vol. 2, No. 11, 11.1993, p. 1785-1792.

Research output: Contribution to journalArticle

Loftus, SK, Edwards, SJ, Scherpbier-Heddema, T, Buetow, K, Wasmuth, JJ & Dixon, MJ 1993, 'A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q', Human Molecular Genetics, vol. 2, no. 11, pp. 1785-1792.
Loftus SK, Edwards SJ, Scherpbier-Heddema T, Buetow K, Wasmuth JJ, Dixon MJ. A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. Human Molecular Genetics. 1993 Nov;2(11):1785-1792.
Loftus, Stacle K. ; Edwards, Sara J. ; Scherpbier-Heddema, Titia ; Buetow, Kenneth ; Wasmuth, John J. ; Dixon, Michael J. / A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. In: Human Molecular Genetics. 1993 ; Vol. 2, No. 11. pp. 1785-1792.
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