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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-beta-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.

Original publication




Journal article


Hum Hered

Publication Date





151 - 157


Base Sequence, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 9, Contig Mapping, Cosmids, DNA Restriction Enzymes, DNA, Complementary, Dopamine beta-Hydroxylase, Gene Library, Genetic Markers, Humans, Models, Genetic, Molecular Sequence Data, Physical Chromosome Mapping, Sequence Tagged Sites