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Title 

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

Authors 

Joonsung HwangSangku LeeDaehwan KimGoeun HanNak Kyun SoungHyunjoo Cha-MolstadKyung Ho LeeIn Ja RyooMi Ja AhnS T KimM J LeeY D YooHee Gu LeeJ T HongH KimE H ChoiS C KimY T KwonJong Seog AhnBo Yeon Kim

Publisher 

Wiley

Issue Date 

2018

Citation 

Experimental Dermatology

Keywords 

Filaggrin mutationPeptide Nucleic Acid (PNA)atopic dermatitishigh-throughput screeningmedical 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.

ISSN 

0906-6705

Link 

http://dx.doi.org/10.1111/exd.13765

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-05-02


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