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

Authors

Xiaoju Wang, Center for Molecular Medicine and Genetics, Wayne State University School of MedicineFollow
Helena Kuivaniemi, Center for Molecular Medicine and Genetics, Wayne State University School of MedicineFollow
Gina Bonavita, Thomas Jefferson UniversityFollow
Charlene J. Williams, Thomas Jefferson UniversityFollow
Gerard Tromp, Center for Molecular Medicine and Genetics, Wayne State University School of MedicineFollow

Document Type

Article

Abstract

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).

Disciplines

Medical Genetics

Recommended Citation

Wang et al. BMC Genomics 2002, 3:24
doi:10.1186/1471-2164-3-24