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To determine the prevalence of the <jats:italic>PRNP<\/jats:italic> gene in patients with AD and FTD in China, we screened all exons of the <jats:italic>PRNP<\/jats:italic> gene in a cohort of 683 cases (606 AD and 77 FTD) in the Chinese Han population and we detected a novel missense mutation p.S17G in a late-onset AD (LOAD) patient. Furthermore, we analyzed the <jats:italic>PRNP<\/jats:italic> M\/V polymorphism at codon 129, which was previously reported as a risk factor. However, there were no significant differences in genotype and allele frequency either in AD (OR\u2009=\u20090.75[0.378\u20131.49], P\u2009=\u20090.492), or FTD patients (OR\u2009=\u20092.046[0.265\u201315.783], P\u2009=\u20090.707). To our knowledge, this is the first study to reveal a correlation between the <jats:italic>PRNP<\/jats:italic> gene and Chinese AD and FTD patients in a large cohort. This study reports a novel p.S17G mutation in a clinically diagnosed LOAD patient, suggesting that the <jats:italic>PRNP<\/jats:italic> mutation is present in Chinese AD patients, whereas, M129V polymorphism is not a risk factor for AD or FTD in the Chinese Han population.<\/jats:p>","DOI":"10.1038\/srep38435","type":"journal-article","created":{"date-parts":[[2016,12,2]],"date-time":"2016-12-02T10:28:54Z","timestamp":1480674534000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Mutational analysis of PRNP in Alzheimer\u2019s disease and frontotemporal dementia in China"],"prefix":"10.1038","volume":"6","author":[{"given":"Weiwei","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuzheng","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xixi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beisha","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,12,2]]},"reference":[{"key":"BFsrep38435_CR1","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1097\/01.wad.0000201854.62116.d7","volume":"20","author":"AR Borenstein","year":"2006","unstructured":"Borenstein, A. 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