Improved diagnostic testing for ataxia–telangiectasia by immunoblotting of nuclear lysates for ATM protein expression
HH Chun, X Sun, SA Nahas, S Teraoka, CH Lai… - Molecular genetics and …, 2003 - Elsevier
The laboratory diagnosis of ataxia–telangiectasia (A–T) currently relies upon measurement
of serum alphafetoprotein (AFP) and cellular sensitivity to ionizing radiation. A previous
report suggests that immunoblotting of whole cell lysates from lymphoblastoid cell lines
(LCLs) might be informative for diagnosis. To further evaluate this possibility, and improve
sensitivity, we performed immunoblotting for ATM protein on nuclear lysates of 71
consecutive radiosensitive LCLs that were established from patients with clinical features …
of serum alphafetoprotein (AFP) and cellular sensitivity to ionizing radiation. A previous
report suggests that immunoblotting of whole cell lysates from lymphoblastoid cell lines
(LCLs) might be informative for diagnosis. To further evaluate this possibility, and improve
sensitivity, we performed immunoblotting for ATM protein on nuclear lysates of 71
consecutive radiosensitive LCLs that were established from patients with clinical features …