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Selected Works of Charlene Williams
Article
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus.
Department of Medicine Faculty Papers
  • Xiaoju Wang, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
  • Helena Kuivaniemi, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA; Center for Molecular Medicine and Genetics, and Department of Surgery, Wayne State University School of Medicine, Detroit, MI 48201
  • Gina Bonavita, Division of Rheumatology, Department of Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
  • Charlene J Williams, Division of Rheumatology, Department of Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
  • Gerard Tromp, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
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Document Type
Article
Publication Date
8-19-2002
Disciplines
Comments
This article has been peer reviewed and is published in BMC Genomics. Volume 3, 19 August 2002, Article number 24. The published version is available at DOI: 10.1186/1471-2164-3-24. Copyright © BioMed Central Ltd.
Abstract

BACKGROUND: The Blau syndrome (MIM 186580), an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hampered us from further refining the genetic locus for the Blau syndrome. To address this problem, we constructed our own high-resolution physical map for the Blau susceptibility region. RESULTS: We generated a high-resolution physical map that provides more than 90% coverage of a refined Blau susceptibility region. The map consists of four contigs of sequence tagged site-based bacterial artificial chromosomes with a total of 124 bacterial artificial chromosomes, and spans approximately 7.5 Mbp; however, three gaps still exist in this map with sizes of 425, 530 and 375 kbp, respectively, estimated from radiation hybrid mapping. CONCLUSIONS: Our high-resolution map will assist genetic studies of loci in the interval from D16S3080, near D16S409, and D16S408 (16q12.1 to 16q13).

PubMed ID
12186634
Citation Information
Xiaoju Wang, Helena Kuivaniemi, Gina Bonavita, Charlene J Williams, et al.. "High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus." (2002)
Available at: http://works.bepress.com/charlene-williams/64/