title: Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.
abstract: The aim of this study was to detect an 811 bp filaggrin (FLG) gene fragment known to carry a mutation 2282del4 which causes ichthyosis vulgaris. Seven clinically examined ichthyosis vulgaris families were included in this study. An 811 bp FLG gene fragment was targeted in the genomic DNA of all the members of the seven families by PCR amplification using known primers RPT1P7 and RPT2P1. Successful amplification of an 811 bp FLG gene fragment in all the families suggested the possible role of the 2282del4 mutation in causing ichthyosis vulgaris in Pakistani population.
authors.affiliation: Karachi Institute of Biotechnology and Genetic Engineering, University of Karachi, Karachi. naghmanaz@yahoo.com
authors.forename: Naghma
authors.initials: N
authors.lastname: Naz
authors.forename: Azam Jah
authors.initials: AJ
authors.lastname: Samdani
mesh_terms: D000091344:Filaggrin Proteins; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000453:epidemiology / Q000235:genetics*; D007381:Intermediate Filament Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010154:Pakistan / Q000453:epidemiology; D010375:Pedigree
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins