Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients.
- Author:
Eun Joo KIM
1
;
Mi Sook JEONG
;
Kapsok LI
;
Mi Kyung PARK
;
Mi Kyung LEE
;
Yoosik YOON
;
Dae Yeon CHO
;
Seong Jun SEO
Author Information
- Publication Type:Original Article
- Keywords: Filaggrin; Genetics; Ichthyosis vulgaris; Mutation; Polymorphisms
- MeSH: Asian Continental Ancestry Group; Base Sequence; Codon, Nonsense; Dermatitis, Atopic; DNA; Humans; Ichthyosis; Ichthyosis Vulgaris; Intermediate Filament Proteins; Polymerase Chain Reaction; Polymorphism, Genetic; Skin; Skin Diseases
- From:Annals of Dermatology 2011;23(2):170-176
- CountryRepublic of Korea
- Language:English
- Abstract: BACKGROUND: Filaggrin is a key protein that facilitates the formation of skin barrier by forming a stratum corneum. Mutations in the gene encoding filaggrin (FLG) have recently been reported in patients with ichthyosis vulgaris (IV). Interestingly, there are ethnic differences between FLG mutations identified in Asians and Europeans, and few FLG mutations are overlapping between Chinese and Japanese IV patients. OBJECTIVE: The aim of this study was to investigative the genetic polymorphism of FLG in Korean IV patients. METHODS: Genomic DNA was extracted from whole venous blood specimen of Korean patients with IV and a control group, and the full sequence of FLG was determined via overlapping long-range polymerase chain reaction method. RESULTS: Analysis of base sequence previously unreported reveal new nonsense mutation p.Y1767X in a Korean IV patient, and additional new single nucleotide polymorphisms. CONCLUSION: On the basis of this study, it is anticipated that analysis of FLG gene sequence be extended to other dermatoses associated with FLG, such as atopic dermatitis.
