Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes
| Autor: | Karen Meaney, Elaine Gray, Jennifer Boyle, Malcolm Hawkins, David E. Barton, Simon C Ramsden, Rob Elles, Paul Metcalfe, Miriam Guitart, Simon Tobi, Anna O'Grady, J. Ross Hawkins |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Diagnostic methods Ubiquitin-Protein Ligases Biology World Health Organization Article World health Unmet needs 03 medical and health sciences Angelman syndrome Genetics UBE3A medicine Humans Epigenetics Genotyping Genetics (clinical) Cell Line Transformed 030304 developmental biology 0303 health sciences 030305 genetics & heredity nutritional and metabolic diseases medicine.disease nervous system diseases 3. Good health Molecular Diagnostic Techniques Clinical diagnosis Female Angelman Syndrome Prader-Willi Syndrome |
| Zdroj: | European Journal of Human Genetics European Journal of Human Genetics; Vol 19 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/ejhg.2011.59 |
| Popis: | Prader Willi and Angelman syndromes are clinically distinct genetic disorders both mapping to chromosome region 15q11-q13, which are caused by a loss of function of paternally or maternally inherited genes in the region, respectively. With clinical diagnosis often being difficult, particularly in infancy, confirmatory genetic diagnosis is essential to enable clinical intervention. However, the latter is challenged by the complex genetics behind both disorders and the unmet need for characterised reference materials to aid accurate molecular diagnosis. With this in mind, a panel of six genotyping reference materials for Prader Willi and Angelman syndromes was developed, which should be stable for many years and available to all diagnostic laboratories. The panel comprises three Prader Willi syndrome materials (two with different paternal deletions, and one with maternal uniparental disomy (UPD)) and three Angelman syndrome materials (one with a maternal deletion, one with paternal UPD or an epigenetic imprinting centre defect, and one with a UBE3A point mutation). Genomic DNA was bulk-extracted from Epstein-Barr virus-transformed lymphoblastoid cell lines established from consenting patients, and freeze-dried as aliquots in glass ampoules. In total, 37 laboratories from 26 countries participated in a collaborative study to assess the suitability of the panel. Participants evaluated the blinded, triplicate materials using their routine diagnostic methods against in-house controls or externally sourced uncertified reference materials. The panel was established by the Expert Committee on Biological Standardization of the World Health Organization as the first International Genetic Reference Panel for Prader Willi and Angelman syndromes. |
| Databáze: | OpenAIRE |
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