{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T19:53:37Z","timestamp":1776110017936,"version":"3.50.1"},"reference-count":4,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurodegener Dis"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Accurate determination of the CAG repeat number is crucial for diagnostic and predictive testing for Huntington disease (HD). Current PCR-based assays can accurately size up to \u223c110 &lt;i&gt;HTT&lt;\/i&gt; CAG repeats. &lt;b&gt;&lt;i&gt;Objective:&lt;\/i&gt;&lt;\/b&gt; To develop an improved assay capable of detecting larger CAG repeat expansions. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; A triplet-primed PCR (TP-PCR) assay was optimized and validated on 14 HD reference DNAs, including a sample carrying a large expansion of \u223c180 CAG repeats. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; All 14 HD reference samples showed 100% concordance with the previously verified allele sizes. For alleles under 45 CAGs, identical repeat sizes were obtained, while alleles larger than 46 CAGs were sized to within \u00b11 CAG. The improved TP-PCR assay successfully detected the \u223c180 CAG repeat allele in an affected sample. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; This method extends the detection limit of large expanded alleles to at least \u223c175-180 CAG repeats, thus reducing the likelihood of requiring Southern blot analysis for any HD-affected sample.<\/jats:p>","DOI":"10.1159\/000444714","type":"journal-article","created":{"date-parts":[[2016,5,22]],"date-time":"2016-05-22T05:26:40Z","timestamp":1463894800000},"page":"348-351","source":"Crossref","is-referenced-by-count":13,"title":["Enhanced Detection and Sizing of the &lt;b&gt;&lt;i&gt;HTT&lt;\/i&gt;&lt;\/b&gt; CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay"],"prefix":"10.1159","volume":"16","author":[{"given":"Mingjue","family":"Zhao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline G.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai-Yang","family":"Law","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel S.","family":"Chong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,5,21]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.12.1022"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2012.09.005"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318156e8c1"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.146"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/444714","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/444714","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/444714","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:50:14Z","timestamp":1745430614000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000444714"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":4,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2016,9,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000444714","archive":["Portico"],"relation":{},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"value":"1660-2854","type":"print"},{"value":"1660-2862","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}