Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.
BACKGROUND
The determination of telomere length is useful for the characterization of dyskeratosis congenita (DC) and of aplastic anemias (AA) as well as hematological malignancies. Short telomeres result from a specific defect of telomere maintenance in DC and likely from higher cellular turnover in AA and hematological malignancies. Data are not conclusive for Diamond-Blackfan anemia (DBA), a pure erythroid aplasia due to defects of ribosomal proteins. Our aim was to evaluate the utility of a qPCR method for telomere length assessment to evaluate the diagnostic contribution of telomere measurement in bone marrow failure syndromes (BMFS).


METHODS
Telomere length was evaluated by qPCR in peripheral blood cells from 95 normal individuals and 62 patients with BMFS, including 45 patients with DBA.


RESULTS
Results obtained with qPCR are comparable with other quantitative methods, such as flow-FISH and Southern blotting. Our data show that only one DBA patient and a minority of other BMFS patients have very short telomeres, defined as less than the 1st percentile of controls.


CONCLUSIONS
The qPCR method for telomere length evaluation is an easy alternative to other methods and may thus be valuable in a clinical hematological laboratory setting. Telomere maintenance does not seem to be involved in the pathogenesis of DBA unlike in other BMFSs.
Pavesi
Elisa
E
Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy.
Avondo
Federica
F
Aspesi
Anna
A
Quarello
Paola
P
Rocci
Alberto
A
Vimercati
Chiara
C
Pigullo
Simona
S
Dufour
Carlo
C
Ramenghi
Ugo
U
Dianzani
Irma
I
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000741:Anemia, Aplastic / Q000097:blood / Q000235:genetics*; D029503:Anemia, Diamond-Blackfan / Q000097:blood / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000235:genetics*; D005199:Fanconi Anemia / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D016615:Telomere
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins