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Int. J. Mol. Sci. 2017, 18(8), 1765; doi:10.3390/ijms18081765

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

1
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
2
Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
3
Cancer Genomics Research Laboratory, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21701, USA
4
Center of Human Development and Aging, Rutgers State University of New Jersey, Newark, NJ 07103, USA
5
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
6
Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, BC V5Z 1L3, Canada
*
Author to whom correspondence should be addressed.
Received: 19 May 2017 / Revised: 5 August 2017 / Accepted: 8 August 2017 / Published: 13 August 2017
(This article belongs to the Special Issue Role of Telomeres and Telomerase in Cancer and Aging)
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Abstract

Several methods have been employed to measure telomere length (TL) in human studies. It has been difficult to directly compare the results from these studies because of differences in the laboratory techniques and output parameters. We compared TL measurements (TLMs) by the three most commonly used methods, quantitative polymerase chain reaction (qPCR), flow cytometry with fluorescence in situ hybridization (flow FISH) and Southern blot, in a cohort of patients with the telomere biology disorder dyskeratosis congenita (DC) and in their unaffected relatives (controls). We observed a strong correlation between the Southern blot average TL and the flow FISH total lymphocyte TL in both the DC patients and their unaffected relatives (R2 of 0.68 and 0.73, respectively). The correlation between the qPCR average TL and that of the Southern blot method was modest (R2 of 0.54 in DC patients and of 0.43 in unaffected relatives). Similar results were noted when comparing the qPCR average TL and the flow FISH total lymphocyte TL (R2 of 0.49 in DC patients and of 0.42 in unaffected relatives). In conclusion, the strengths of the correlations between the three widely used TL assays (qPCR, flow FISH, and Southern blot) were significantly different. Careful consideration is warranted when selecting the method of TL measurement for research and for clinical studies. View Full-Text
Keywords: telomere length measurement; qPCR; Southern blot; flow FISH; correlation; dyskeratosis congenita telomere length measurement; qPCR; Southern blot; flow FISH; correlation; dyskeratosis congenita
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Khincha, P.P.; Dagnall, C.L.; Hicks, B.; Jones, K.; Aviv, A.; Kimura, M.; Katki, H.; Aubert, G.; Giri, N.; Alter, B.P.; Savage, S.A.; Gadalla, S.M. Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives. Int. J. Mol. Sci. 2017, 18, 1765.

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