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Molecules 2017, 22(11), 1874; doi:10.3390/molecules22111874

Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube

1
Division of Pediatric Endocrinology & Genetics, Chang Gung Memorial Hospital, Linkou, Taoyuan 333, Taiwan
2
School of Medicine, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan
3
Molecular Medicine Research Center, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan
4
Department of Medical Biotechnology and Laboratory Science, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan
5
Department of Thoracic Medicine, Chang Gung Memorial Hospital, Linkou, Taoyuan 333, Taiwan
*
Author to whom correspondence should be addressed.
Received: 29 August 2017 / Revised: 23 October 2017 / Accepted: 30 October 2017 / Published: 1 November 2017
(This article belongs to the Special Issue Molecular Properties and the Applications of Peptide Nucleic Acids)
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Abstract

McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations—R201H or R201C—in 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. View Full-Text
Keywords: peptide nucleic acid probe; sensitive detection; McCune-Albright syndrome; GNAS mutation peptide nucleic acid probe; sensitive detection; McCune-Albright syndrome; GNAS mutation
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MDPI and ACS Style

Lo, F.-S.; Chen, T.-L.; Chiou, C.-C. Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube. Molecules 2017, 22, 1874.

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