Physical map of the region surrounding the Ataxia-Telangiectasia gene on human chromosome 11q22-23

Ataxia telangiectasia (A-T) is an autosomal recessive disease affecting mul tiple systems, including the development of the cerebellum and thymus, This results in a progressive cerebellar ataxia with onset between 1-3 years, t elangiectasia occurs within the subsequent 3-5 years. We localized the A-T gene by linkage analysis to chromosome 11q22-23, between the markers D11S38 4, and D11S535, and constructed a series of contigs using three BACs and tw elve cosmids, spanning a region of similar to 400 kb. We developed a set of sequence-tagged site (STS) markers from the ends of the BACs and cosmids. The A-T gene was isolated from within this region. It is now possible to pr ecisely orient specific BACs, cosmids, and STSs with respect to the exons o f the A-T gene (ATM). We anticipate that this information will be useful fo r further studies of functional domains and regulatory elements within the ATM gene, as well as for other genes in this region. In addition, these clo nes can be used for FISH studies of deletions, translocations and for loss of heterozygosity in various tumors.