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Dermatology

Department of Medicine

Ichthyosis vulgaris; Filaggrin gene (FLG); R501X mutation; PCR amplification.

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Molecular Studies Of Ichthyosis Vulgaris In Pakistani Families., Azam J. Samdani, Naghma Naz, Nuzhat Ahmed Oct 2010

Molecular Studies Of Ichthyosis Vulgaris In Pakistani Families., Azam J. Samdani, Naghma Naz, Nuzhat Ahmed

Department of Medicine

Objective: To target and amplify a 1.5 kb FLG gene fragment known to carry R501X mutation responsible for causing ichthyosis vulgaris.

Study Design: A case series.

Place and Duration of Study: Centre for Molecular Genetics, University of Karachi and Dermatology Department, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from October 2007 to December 2008.

Methodology: Clinically examined seven ichthyosis vulgaris families were included in this study. The 1.5 kb FLG gene fragment was located in the genomic DNA of both the affected (patients) and unaffected (normal, controls) members of the families by PCR amplification using known primers FilF3 and RPTIP6.

Results: …