Sökning: WFRF:(de Carvalho Mamede) > A blinded internati...
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000 | 04919naa a2200805 4500 | |
001 | oai:DiVA.org:umu-91059 | |
003 | SwePub | |
008 | 140710s2014 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-910592 URI |
024 | 7 | a https://doi.org/10.1136/jmedgenet-2014-1023602 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Akimoto, Chizuruu Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)chak0009 |
245 | 1 0 | a A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories |
264 | c 2014-04-04 | |
264 | 1 | b BMJ,c 2014 |
338 | a print2 rdacarrier | |
520 | a Background The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the studies on C9orf72 have relied on repeat-primed PCR (RP-PCR) methods for detection of the expansions. To investigate the inherent limitations of this technique, we compared methods and results of 14 laboratories. Methods The 14 laboratories genotyped DNA from 78 individuals (diagnosed with ALS or FTD) in a blinded fashion. Eleven laboratories used a combination of amplicon-length analysis and RP-PCR, whereas three laboratories used RP-PCR alone; Southern blotting techniques were used as a reference. Results Using PCR-based techniques, 5 of the 14 laboratories got results in full accordance with the Southern blotting results. Only 50 of the 78 DNA samples got the same genotype result in all 14 laboratories. There was a high degree of false positive and false negative results, and at least one sample could not be genotyped at all in 9 of the 14 laboratories. The mean sensitivity of a combination of amplicon-length analysis and RP-PCR was 95.0% (73.9-100%), and the mean specificity was 98.0% (87.5-100%). Overall, a sensitivity and specificity of more than 95% was observed in only seven laboratories. Conclusions Because of the wide range seen in genotyping results, we recommend using a combination of amplicon-length analysis and RP-PCR as a minimum in a research setting. We propose that Southern blotting techniques should be the gold standard, and be made obligatory in a clinical diagnostic setting. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Volk, Alexander E.4 aut |
700 | 1 | a van Blitterswijk, Marka4 aut |
700 | 1 | a Van den Broeck, Marleen4 aut |
700 | 1 | a Leblond, Claire S.4 aut |
700 | 1 | a Lumbroso, Serge4 aut |
700 | 1 | a Camu, William4 aut |
700 | 1 | a Neitzel, Birgit4 aut |
700 | 1 | a Onodera, Osamu4 aut |
700 | 1 | a van Rheenen, Wouter4 aut |
700 | 1 | a Pinto, Susana4 aut |
700 | 1 | a Weber, Markus4 aut |
700 | 1 | a Smith, Bradley4 aut |
700 | 1 | a Proven, Melanie4 aut |
700 | 1 | a Talbot, Kevin4 aut |
700 | 1 | a Keagle, Pamela4 aut |
700 | 1 | a Chesi, Alessandra4 aut |
700 | 1 | a Ratti, Antonia4 aut |
700 | 1 | a van der Zee, Julie4 aut |
700 | 1 | a Alstermark, Helenau Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)heal0001 |
700 | 1 | a Birve, Annau Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)anbi0001 |
700 | 1 | a Calini, Daniela4 aut |
700 | 1 | a Nordin, Angelicau Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)acaoln03 |
700 | 1 | a Tradowsky, Daniela C.4 aut |
700 | 1 | a Just, Walter4 aut |
700 | 1 | a Daoud, Hussein4 aut |
700 | 1 | a Angerbauer, Sabrina4 aut |
700 | 1 | a DeJesus-Hernandez, Mariely4 aut |
700 | 1 | a Konno, Takuya4 aut |
700 | 1 | a Lloyd-Jani, Anjali4 aut |
700 | 1 | a de Carvalho, Mamede4 aut |
700 | 1 | a Mouzat, Kevin4 aut |
700 | 1 | a Landers, John E.4 aut |
700 | 1 | a Veldink, Jan H.4 aut |
700 | 1 | a Silani, Vincenzo4 aut |
700 | 1 | a Gitler, Aaron D.4 aut |
700 | 1 | a Shaw, Christopher E.4 aut |
700 | 1 | a Rouleau, Guy A.4 aut |
700 | 1 | a van den Berg, Leonard H.4 aut |
700 | 1 | a Van Broeckhoven, Christine4 aut |
700 | 1 | a Rademakers, Rosa4 aut |
700 | 1 | a Andersen, Peter M.u Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)pean0001 |
700 | 1 | a Kubisch, Christian4 aut |
710 | 2 | a Umeå universitetb Klinisk neurovetenskap4 org |
773 | 0 | t Journal of Medical Geneticsd : BMJg 51:6, s. 419-424q 51:6<419-424x 0022-2593x 1468-6244 |
856 | 4 | u https://jmg.bmj.com/content/51/6/419.full.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-91059 |
856 | 4 8 | u https://doi.org/10.1136/jmedgenet-2014-102360 |
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