Article
Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.
The Journal of pediatrics - 1 Jun 2002
Sun Xia, Becker-Catania Sara G, Chun Helen H, Hwang Mee Jeong, Huo Yong, Wang Zhijun, Mitui Midori, Sanal Ozden, Chessa Luciana, Crandall Barbara, Gatti Richard A
Abstract excerpt
OBJECTIVES: To utilize radiosensitivity testing to improve early diagnosis of patients with ataxia-telangiectasia (A-T). STUDY DESIGN: We established normal ranges for the colony survival assay (CSA) by testing cells from 104 patients with typical A-T, 29 phenotypic normal patients, and 19 A-T heterozygotes. We also analyzed 61 samples from patients suspected of having A-T and 25 patients with related disorders...
Topics
- Ataxia Telangiectasia
- Cell Survival
- Cells, Cultured
- Dose-Response Relationship, Radiation
- Humans
- Mutation
- Phosphorylation
- Radiation Tolerance
- Reference Values
- Sensitivity and Specificity