Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1.

作者信息

Gatti R A, Lange E, Rotman G, Chen X, Uhrhammer N, Liang T, Chiplunkar S, Yang L, Udar N, Dandekar S, Sheikhavandi S, Wang Z, Yang H M, Polikow J, Elashoff M, Teletar M, Sanal O, Chessa L, McConville C, Taylor M, Shiloh Y, Porras O, Borresen A L, Wegner R D, Curry C, Gerken S, Lange K, Concannon P

机构信息

Department of Pathology, UCLA School of Medicine.

出版信息

Int J Radiat Biol. 1994 Dec;66(6 Suppl):S57-62.

The genotyping data given localize the major A-T gene to an approximately 850 kb region. They also localize the group A A-T gene (ATA) to a region that contains the approximately 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 approximately 850 kb region. However, convincing evidence for a second gene is still lacking.