Open Access Research article

High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus

Xiaoju Wang1, Helena Kuivaniemi12, Gina Bonavita3, Charlene J Williams3 and Gerard Tromp1*

Author Affiliations

1 Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA

2 Center for Molecular Medicine and Genetics, and Department of Surgery, Wayne State University School of Medicine, Detroit, MI 48201, USA

3 Division of Rheumatology, Department of Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA

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BMC Genomics 2002, 3:24  doi:10.1186/1471-2164-3-24

Published: 19 August 2002



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.


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.


Our high-resolution map will assist genetic studies of loci in the interval from D16S3080, near D16S409, and D16S408 (16q12.1 to 16q13).