Author(s): Dr. Xi-Bao Zhang
Journal: Journal of Clinical & Experimental Dermatology Research
ISSN 2155-9554
Volume: 1;
Issue: 1;
Date: 2010;
Original page
Keywords: Ichthyosis vulgaris | Southern chinese population | Filaggrin | Mutations | Polymorphism
ABSTRACT
Background: Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris (IV). Objective: To study the genetics of FLG mutations in Southern Chinese patients with IV. Methods: We evaluated the influence of five mutations (3321 delA, 441delA, 1249 insG, E1795X and S3296X) in a cohort of 65 IV Chinese patients and in 100 control individuals using the Sequenom® MassARRAY® system. Results: The null allele frequency of 3321delA was 52.31 % (34/65). FLG mutation 441delA was only found in one IV patients. FLG mutations 1249insG, E1795X and S3296X were not found in these patients. Conclusions: These findings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients. Our findings confirm and extend the knowledge of the influence of FLG mutations in IV.
Journal: Journal of Clinical & Experimental Dermatology Research
ISSN 2155-9554
Volume: 1;
Issue: 1;
Date: 2010;
Original page
Keywords: Ichthyosis vulgaris | Southern chinese population | Filaggrin | Mutations | Polymorphism
ABSTRACT
Background: Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris (IV). Objective: To study the genetics of FLG mutations in Southern Chinese patients with IV. Methods: We evaluated the influence of five mutations (3321 delA, 441delA, 1249 insG, E1795X and S3296X) in a cohort of 65 IV Chinese patients and in 100 control individuals using the Sequenom® MassARRAY® system. Results: The null allele frequency of 3321delA was 52.31 % (34/65). FLG mutation 441delA was only found in one IV patients. FLG mutations 1249insG, E1795X and S3296X were not found in these patients. Conclusions: These findings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients. Our findings confirm and extend the knowledge of the influence of FLG mutations in IV.
