Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

ABSTRACT: Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere maintenance pathway; patients with DC have very short telomeres. We used multicolor flow fluorescence in situ hybridization analysis of median telomere length in total blood leukocytes, granulocytes, lymphocytes, and several lymphocyte subsets to confirm the diagnosis of DC, distinguish patients with DC from unaffected family members, identify clinically silent DC carriers, and discriminate between patients with DC and those with other bone marrow failure disorders. We defined "very short" telomeres as below the first percentile measured among 400 healthy control subjects over the entire age range. Diagnostic sensitivity and specific

SUBMITTER: Alter BP 

PROVIDER: S-EPMC1975834 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature