Genetic Haplotyping of Ataxia-telangiectasia Families Localizes the Major Gene to an ∼ 850 kb Region on Chromosome 11q23.1

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Abstract
The genotyping data given localize the major A-T gene to an ∼ 850 kb region. They also localize the group A A-T gene (ATA) to a region that contains the ∼ 850 kb region. They are compatible with linking A-TFresno to 11q22–23. NBS-V2 does not link to this region. Four non-linking families contain only single affecteds, suggesting that these may be spontaneous mutations rather than evidence for an A-T gene outside the 11q22–23 region. Finally, two other non-linking families contain recombinant haplotypes that are compatible with a second A-T gene at 11q22-23, slightly distal to the ∼ 850 kb region. However, convincing evidence for a second gene is still lacking.
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