Original Paper

Physical and cDNA Mapping in the DBH Region of Human Chromosome 9q34
J.R. Gilbert^a, A. Kumar^b, S. Newey^c, N. Rao^d, P. Ioannou^e, H. Qiu^a, D. Lin^a, P. Xu^a, M.J. Pettenati^d, M.A. Pericak-Vance<sup>a

a</sup>Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, N.C.,
^bCenter for Human Genetics, Case Western Reserve University, Cleveland, Ohio, USA;
^cDepartment of Molecular Biology, Oxford University, Oxford, UK;
^dSection of Medical Genetics, Department of Pediatrics, Bowman Gray School of Medicine, Winston-Salem, N.C., USA;
^eThe Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

Address of Corresponding Author

Hum Hered 2000;50:151-157 (DOI: 10.1159/000022905)

  Key Words

• Human chromosome 9q
• Genomic contig
• cDNA

  Abstract

Chromosome 9q34 has been extensively studied and mapped due to the presence of known disease genes, principally tuberous sclerosis 1 (TSC1), in this region. During the course of our mapping of this region we constructed a 555-kb contig beginning approximately 50 kb proximal to the dopamine--hydroxylase (DBH) gene and extending, with one small deletion, distal to the D9S114 marker. The contig consists of 11 P1 clones, four PAC clones, one BAC clone and six cosmid clones and contains 27 new nonpolymorphic STSs. We have found the region to be unstable in P1, PAC and BAC cloning vehicles and have identified several deleted genomic clones. In addition, we have isolated and mapped the 3' portions of three putative genes located within or immediately distal to the DBH gene, including one large gene that runs on the opposite strand to DBH and utilizes portions of two DBH exons. The genomic clones of the contig, cDNAs and new STSs will be useful reagents for the further study and mapping of this region.

Copyright © 2000 S. Karger AG, Basel

  Author Contacts

John R. Gilbert, PhD
Center for Human Genetics, Duke University Medical Center
Box 2903, Durham, NC 27710 (USA)
Tel. +1 919 681 5543, Fax +1 919 681 7894
E-Mail john@chg.mc.duke.edu

  Article Information

Received: Received: March 11, 1999
Accepted: March 16, 1999
Number of Print Pages : 7
Number of Figures : 2, Number of Tables : 2, Number of References : 9