High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
| Autor: | Kevin Norris, Mark J. Ponsford, Tom Vulliamy, Inderjeet Dokal, Amanda J. Walne, Jenna Alnajar, Alicia Ellison, Julia W. Grimstead, Kez Cleal, Duncan M. Baird |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Oncology Heterozygote medicine.medical_specialty Adolescent Biology Severity of Illness Index Asymptomatic Dyskeratosis Congenita 03 medical and health sciences 0302 clinical medicine Intellectual Disability Internal medicine Genetics medicine Humans Child Genetics (clinical) Aged Original Investigation 030304 developmental biology 0303 health sciences Fetal Growth Retardation Telomere biology Genetic Carrier Screening Age Factors Infant Telomere Homeostasis Retrospective cohort study Bone Marrow Failure Disorders Middle Aged Telomere Survival Analysis Human genetics Case-Control Studies Child Preschool 030220 oncology & carcinogenesis Clinical diagnosis Asymptomatic Diseases Mutation (genetic algorithm) Cohort Microcephaly Female medicine.symptom |
| Zdroj: | Human Genetics |
| ISSN: | 0340-6717 |
| Popis: | Telomere biology disorders are complex clinical conditions that arise due to mutations in genes required for telomere maintenance. Telomere length has been utilised as part of the diagnostic work-up of patients with these diseases; here, we have tested the utility of high-throughput STELA (HT-STELA) for this purpose. HT-STELA was applied to a cohort of unaffected individuals (n = 171) and a retrospective cohort of mutation carriers (n = 172). HT-STELA displayed a low measurement error with inter- and intra-assay coefficient of variance of 2.3% and 1.8%, respectively. Whilst telomere length in unaffected individuals declined as a function of age, telomere length in mutation carriers appeared to increase due to a preponderance of shorter telomeres detected in younger individuals (p p p |
| Databáze: | OpenAIRE |
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