Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q

Shrawan Kumar, William J. Kimberling, A. Lányi, Janos Sumegi, Jeff Pinnt, Paul Ing, Sue Tinley, Henri A M Marres, Cor W R J Cremers

Research output: Contribution to journalArticle

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Abstract

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial abnormality, hearing loss, and renal anomalies. Recently, the disease gene has been localized to chromosome 8q. Here, we report genetic studies that further refine the disease gene region to a smaller interval and identify several YACs from the critical region. We studied two large, clinically well-characterized BOR families with a set of 13 polymorphic markers spanning the D8S165-D8S275 interval from the chromosome 8q region. Based on multipoint analysis, the highest likelihood for the location of the BOR gene is between markers D8S543 and D8S530, a distance of about 2 cM. YACs that map in the BOR critical region have been identified and characterized by fluorescence in situ hybridization and pulsed-field gel electrophoresis. A YAC contig, based on the STS content map, that covers a minimum of 4 Mb of human DNA in the critical region of BOR is assembled. This lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in BOR syndrome.

Original languageEnglish
Pages (from-to)71-79
Number of pages9
JournalGenomics
Volume31
Issue number1
DOIs
Publication statusPublished - Jan 1 1996

Fingerprint

Yeast Artificial Chromosomes
Chromosomes
Branchio-Oto-Renal Syndrome
Kidney
Genes
Pulsed Field Gel Electrophoresis
Fluorescence In Situ Hybridization
Hearing Loss
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q. / Kumar, Shrawan; Kimberling, William J.; Lányi, A.; Sumegi, Janos; Pinnt, Jeff; Ing, Paul; Tinley, Sue; Marres, Henri A M; Cremers, Cor W R J.

In: Genomics, Vol. 31, No. 1, 01.01.1996, p. 71-79.

Research output: Contribution to journalArticle

Kumar, S, Kimberling, WJ, Lányi, A, Sumegi, J, Pinnt, J, Ing, P, Tinley, S, Marres, HAM & Cremers, CWRJ 1996, 'Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q', Genomics, vol. 31, no. 1, pp. 71-79. https://doi.org/10.1006/geno.1996.0011
Kumar, Shrawan ; Kimberling, William J. ; Lányi, A. ; Sumegi, Janos ; Pinnt, Jeff ; Ing, Paul ; Tinley, Sue ; Marres, Henri A M ; Cremers, Cor W R J. / Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q. In: Genomics. 1996 ; Vol. 31, No. 1. pp. 71-79.
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