TY - JOUR
T1 - Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q
AU - Kumar, Shrawan
AU - Kimberling, William J.
AU - Lanyi, Arpad
AU - Sumegi, Janos
AU - Pinnt, Jeff
AU - Ing, Paul
AU - Tinley, Sue
AU - Marres, Henri A.M.
AU - Cremers, Cor W.R.J.
N1 - Funding Information:
We thank Kathleen Brennan, Ashya Dobin, Tom Fowler, Denise Hoover, Phil Kelly, Judy Kenyon, Larry Overbeck, and Mike Weston for their help with manuscript preparation, ®gures, and oligonucleotide synthesis. We are grateful to Dr. Eric Haan for providing the lymphoblast cell line from a TRPS/BO patient and Dr. Lee Harker for clinical evaluation. This work was supported by a grant from the National Institutes of Health (NIDCD) (PO1 DC01813).
PY - 1996/1/1
Y1 - 1996/1/1
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.1996.0011
DO - 10.1006/geno.1996.0011
M3 - Article
C2 - 8808282
AN - SCOPUS:0030026159
SN - 0888-7543
VL - 31
SP - 71
EP - 79
JO - Genomics
JF - Genomics
IS - 1
ER -