Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping

Shrawan Kumar, William J. Kimberling, Christopher J. Connolly, Sue Tinley, Henri A.M. Marres, Cor W.R.J. Cremers

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder associated with external-, middle-, and inner-ear malformations, branchial cleft sinuses, cervical fistulas, mixed hearing loss, and renal anomalies. The gene for BOR was mapped to the long arm of chromosome 8q. Several polymorphic dinucleotide repeat markers were investigated for linkage in two large BOR families, and the region of localization was refined. Two-point linkage analysis yielded the maximum lod scores of 7.44 at θ = .03 and 6.71 at θ = .04, with markers D8S279 and D8S260, respectively. A multipoint analysis was carried out to position the BOR gene with a defined region using markers D8S165, D8S285, PENK, D8S166, D8S260, D8S279, D8S164, D8S286, D8S84, D8S275, D8S167, D8S273, and D8S271. Haplotype analysis of recombination events at these polymorphic loci was also performed in multigeneration BOR kindreds. The linkage analysis and analysis of recombination events identified markers that clearly flank the BOR locus. The order was determined to be D8S260-BOR-D8S279 at odds >103:1 over the other possible orders. This flanking markers provide a resource for high-resolution mapping toward cloning and characterizing the BOR gene.

Original languageEnglish (US)
Pages (from-to)1188-1194
Number of pages7
JournalAmerican Journal of Human Genetics
Volume55
Issue number6
StatePublished - Dec 1 1994

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Branchio-Oto-Renal Syndrome
Genetic Markers
Genetic Recombination
Mixed Conductive-Sensorineural Hearing Loss
Genes
Dinucleotide Repeats
Lod Score
Middle Ear
Inner Ear
Haplotypes
Fistula
Organism Cloning
Chromosomes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Kumar, S., Kimberling, W. J., Connolly, C. J., Tinley, S., Marres, H. A. M., & Cremers, C. W. R. J. (1994). Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping. American Journal of Human Genetics, 55(6), 1188-1194.

Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping. / Kumar, Shrawan; Kimberling, William J.; Connolly, Christopher J.; Tinley, Sue; Marres, Henri A.M.; Cremers, Cor W.R.J.

In: American Journal of Human Genetics, Vol. 55, No. 6, 01.12.1994, p. 1188-1194.

Research output: Contribution to journalArticle

Kumar, S, Kimberling, WJ, Connolly, CJ, Tinley, S, Marres, HAM & Cremers, CWRJ 1994, 'Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping', American Journal of Human Genetics, vol. 55, no. 6, pp. 1188-1194.
Kumar S, Kimberling WJ, Connolly CJ, Tinley S, Marres HAM, Cremers CWRJ. Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping. American Journal of Human Genetics. 1994 Dec 1;55(6):1188-1194.
Kumar, Shrawan ; Kimberling, William J. ; Connolly, Christopher J. ; Tinley, Sue ; Marres, Henri A.M. ; Cremers, Cor W.R.J. / Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping. In: American Journal of Human Genetics. 1994 ; Vol. 55, No. 6. pp. 1188-1194.
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