A haplotype common to intermediate radiosensitivity variants of ataxia-telangiectasia in the UK.
In a study of ataxia-telangiectasia (A-T) in the UK, patients in 10 out of 60 families were shown to have a much lower level of chromosomal radiosensitivity compared with the majority of patients. In some patients the level of radiosensitivity was hardly distinguishable from normal. Patients in this group, however, could be distinguished clinically from the majority either by the later onset of severe cerebellar features or the slower rate of progress of the disorder. By using highly polymorphic microsatellite repeat markers a chromosome 11q22-23 haplotype common to the majority of these patients, and not occurring in any non-A-T chromosome in 60 families, was identified on one chromosome. The haplotype probably defines the region of the A-T gene in these families and the mutation associated with this haplotype may be much less severe than the second mutation thereby producing the slightly milder phenotype.
CRC Department of Cancer Studies, Medical School, Birmingham, UK.
A M
AM
Taylor
C M
CM
McConville
G
G
Rotman
Y
Y
Shiloh
P J
PJ
Byrd
D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002648:Child; D002880:Chromosomes, Human, Pair 11; D005260:Female; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008297:Male; D011836:Radiation Tolerance; D006113:United Kingdom