Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach

Analysis of telomere status in patients with Fanconi anaemia (FA) has previously 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...

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Veröffentlicht in:Cytogenetic and genome research 2001-01, Vol.93 (3-4), p.203-206
Hauptverfasser: Hanson, H., Mathew, C.G., Docherty, Z., Mackie Ogilvie, C.
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container_issue 3-4
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container_title Cytogenetic and genome research
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creator Hanson, H.
Mathew, C.G.
Docherty, Z.
Mackie Ogilvie, C.
description Analysis of telomere status in patients with Fanconi anaemia (FA) has previously 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 compared with age-matched controls. This paper confirms and extends these findings using a direct FISH technique, which showed that 15 out of 16 FA patients had increased loss of telomere signals compared with controls. In 12 out of the 16 patients, decrease in telomere signal intensity could also be detected using a Q-FISH approach.   
doi_str_mv 10.1159/000056985
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source Karger Journals; MEDLINE
subjects Anemias. Hemoglobinopathies
Biological and medical sciences
Child
Child, Preschool
Chromosome Aberrations - genetics
Diseases of red blood cells
Fanconi Anemia - genetics
Hematologic and hematopoietic diseases
Humans
In Situ Hybridization, Fluorescence
Infant
Matched-Pair Analysis
Medical sciences
Original Article
Telomere - genetics
title Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach
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