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Peptide nucleic acid (PNA) probe-based analysis to detect filaggrin mutations in atopic dermatitis patients

Authors
 Joonsung Hwang  ;  Sangku Lee  ;  Daehwan Kim  ;  Goeun Han  ;  Nak Kyun Soung  ;  Hyunjoo Cha‐Molstad  ;  Kyung Ho Lee  ;  In Ja Ryoo  ;  Mi Ja Ahn  ;  Sung Tae Kim  ;  Min Jae Lee  ;  Young Dong Yoo  ;  Hee Gu Lee  ;  Jin Tae Hong  ;  Hyunjung Kim  ;  Eung Ho Choi  ;  Soo‐Chan Kim  ;  Yong Tae Kwon  ;  Jong Seog Ahn  ;  Bo Yeon Kim 
Citation
 EXPERIMENTAL DERMATOLOGY, Vol.27(11) : 1304-1308, 2018 
Journal Title
 EXPERIMENTAL DERMATOLOGY 
ISSN
 0906-6705 
Issue Date
2018
Keywords
Filaggrin mutation ; Peptide Nucleic Acid (PNA) ; atopic dermatitis ; high-throughput screening ; medical diagnosis
Abstract
Atopic dermatitis (AD) is a chronic inflammatory skin disease whose prevalence is increasing worldwide. Filaggrin (FLG) is essential for the development of the skin barrier, and its genetic mutations are major predisposing factors for AD. In this study, we developed a convenient and practical method to detect FLG mutations in AD patients using peptide nucleic acid (PNA) probes labelled with fluorescent markers for rapid analysis. Fluorescence melting curve analysis (FMCA) precisely identified FLG mutations based on the distinct difference in the melting temperatures of the wild-type and mutant allele. Moreover, PNA probe-based FMCA easily and accurately verified patient samples with both heterozygote and homozygote FLG mutations, providing a high-throughput method to reliable screen AD patients. Our method provides a convenient, rapid and accurate diagnostic tool to identify potential AD patients allowing for early preventive treatment, leading to lower incidence rates of AD, and reducing total healthcare expenses.
Full Text
https://onlinelibrary.wiley.com/doi/full/10.1111/exd.13765
DOI
10.1111/exd.13765
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Soo Chan(김수찬) ORCID logo https://orcid.org/0000-0002-2327-4755
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/166628
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