McConville C M, Byrd P J, Ambrose H J, Stankovic T, Ziv Y, Bar-Shira A, Vanagaite L, Rotman G, Shiloh Y, Gillett G T
Department of Cancer Studies, Medical School, University of Birmingham, UK.
Hum Mol Genet. 1993 Jul;2(7):969-74. doi: 10.1093/hmg/2.7.969.
The high resolution mapping of the ataxia telangiectasia (A-T) locus on chromosome 11q22-23 requires the generation of new polymorphic markers specifically within the segment of 11q22-23 to which the locus has been assigned. We have made use of a library of Alu-PCR clones, amplified from a radiation reduced somatic cell hybrid containing the relevant chromosome 11 segment, to generate sequence tagged sites (STS) within the 11q22-23 region and have used YAC clones to extend the loci identified by these STSs. The identification of paired polymorphisms (from Alu-PCR and the associated YAC derived clone), which are physically linked, but which show minimal linkage disequilibrium, provides a highly informative haplotype for use in genetic linkage analysis in A-T families. We describe the characterisation of 2 such polymorphic loci, D11S535 and D11S611, which map between existing flanking markers, and which provide additional information on the location of the major A-T locus.
