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FältnamnIndikatorerMetadata
00004919naa a2200805 4500
001oai:DiVA.org:umu-91059
003SwePub
008140710s2014 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-910592 URI
0247 a https://doi.org/10.1136/jmedgenet-2014-1023602 DOI
040 a (SwePub)umu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Akimoto, Chizuruu Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)chak0009
2451 0a 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 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Volk, Alexander E.4 aut
7001 a van Blitterswijk, Marka4 aut
7001 a Van den Broeck, Marleen4 aut
7001 a Leblond, Claire S.4 aut
7001 a Lumbroso, Serge4 aut
7001 a Camu, William4 aut
7001 a Neitzel, Birgit4 aut
7001 a Onodera, Osamu4 aut
7001 a van Rheenen, Wouter4 aut
7001 a Pinto, Susana4 aut
7001 a Weber, Markus4 aut
7001 a Smith, Bradley4 aut
7001 a Proven, Melanie4 aut
7001 a Talbot, Kevin4 aut
7001 a Keagle, Pamela4 aut
7001 a Chesi, Alessandra4 aut
7001 a Ratti, Antonia4 aut
7001 a van der Zee, Julie4 aut
7001 a Alstermark, Helenau Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)heal0001
7001 a Birve, Annau Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)anbi0001
7001 a Calini, Daniela4 aut
7001 a Nordin, Angelicau Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)acaoln03
7001 a Tradowsky, Daniela C.4 aut
7001 a Just, Walter4 aut
7001 a Daoud, Hussein4 aut
7001 a Angerbauer, Sabrina4 aut
7001 a DeJesus-Hernandez, Mariely4 aut
7001 a Konno, Takuya4 aut
7001 a Lloyd-Jani, Anjali4 aut
7001 a de Carvalho, Mamede4 aut
7001 a Mouzat, Kevin4 aut
7001 a Landers, John E.4 aut
7001 a Veldink, Jan H.4 aut
7001 a Silani, Vincenzo4 aut
7001 a Gitler, Aaron D.4 aut
7001 a Shaw, Christopher E.4 aut
7001 a Rouleau, Guy A.4 aut
7001 a van den Berg, Leonard H.4 aut
7001 a Van Broeckhoven, Christine4 aut
7001 a Rademakers, Rosa4 aut
7001 a Andersen, Peter M.u Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)pean0001
7001 a Kubisch, Christian4 aut
7102 a Umeå universitetb Klinisk neurovetenskap4 org
7730 t Journal of Medical Geneticsd : BMJg 51:6, s. 419-424q 51:6<419-424x 0022-2593x 1468-6244
8564 u https://jmg.bmj.com/content/51/6/419.full.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-91059
8564 8u https://doi.org/10.1136/jmedgenet-2014-102360

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