Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach

Analysis of telomere status in patients with Fanconi anaemia (FA) has previ ously been carried out by measurement of telomere restriction fragment (TRF ) length by Southern blotting and densitometry. Results from these studies indicated that FA patients had significant reduction in telomere length com pared with age-matched controls. This paper confirms and extends these find ings using a direct FISH technique, which showed that 15 out of 16 FA patie nts had increased loss of telomere signals compared with controls. In 12 ou t of the 16 patients, decrease in telomere signal intensity could also be d etected using a Q-FISH approach. Copyright (C) 2001 S. Karger AG, Basel.