{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T07:27:37Z","timestamp":1772609257290,"version":"3.50.1"},"reference-count":24,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012553","name":"Chang Gung Memorial Hospital","doi-asserted-by":"publisher","award":["CMRPG4C0011"],"award-info":[{"award-number":["CMRPG4C0011"]}],"id":[{"id":"10.13039\/100012553","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecules"],"abstract":"<jats:p>McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, caf\u00e9 au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations\u2014R201H or R201C\u2014in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. In the present study, a novel peptide nucleic acid (PNA) probe with fluorescent labeling was designed to detect trace amounts of somatic mutant GNAS in a single tube reaction. The method was applied to screen GNAS mutations in six patients with MAS\/FD. The results showed that the PNA probe assay could detect low abundant mutants in 200-fold excess of wild-type alleles. The GNAS mutation was found in three patients with severe disease (MAS) by using the assay. The other three patients with mild disease (having only FD) showed a wild-type result. This study has provided a simple method to detect trace amounts of GNAS mutants with high sensitivity in large amounts of wild-type DNA.<\/jats:p>","DOI":"10.3390\/molecules22111874","type":"journal-article","created":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T16:01:19Z","timestamp":1509552079000},"page":"1874","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube"],"prefix":"10.3390","volume":"22","author":[{"given":"Fu-Sung","family":"Lo","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology & Genetics, Chang Gung Memorial Hospital, Linkou, Taoyuan 333, Taiwan"},{"name":"School of Medicine, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tai-Long","family":"Chen","sequence":"additional","affiliation":[{"name":"Molecular Medicine Research Center, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiuan-Chian","family":"Chiou","sequence":"additional","affiliation":[{"name":"Molecular Medicine Research Center, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan"},{"name":"Department of Medical Biotechnology and Laboratory Science, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan"},{"name":"Department of Thoracic Medicine, Chang Gung Memorial Hospital, Linkou, Taoyuan 333, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2017,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5152","DOI":"10.1073\/pnas.89.11.5152","article-title":"Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome","volume":"89","author":"Schwindinger","year":"1992","journal-title":"Proc. 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