title: Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients.
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.
  
  
  CONCLUSIONS
  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.
authors: Chung-Ang Medical Research Center, Seoul, Korea.
authors: Eun Joo
authors: EJ
authors: Kim
authors: Mi Sook
authors: MS
authors: Jeong
authors: Kapsok
authors: K
authors: Li
authors: Mi Kyung
authors: MK
authors: Park
authors: Mi-Kyung
authors: MK
authors: Lee
authors: Yoosik
authors: Y
authors: Yoon
authors: Dae-Yeon
authors: DY
authors: Cho
authors: Seong Jun
authors: SJ
authors: Seo