Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.

Authors

Naghma Naz, University of Karachi, Pakistan
Azam J. Samdani, Aga Khan UniversityFollow

Document Type

Article

Department

Medicine

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.

Comments

SHORT COMMUNICATION

Publication (Name of Journal)

JCPSP: Journal of the College of Physicians and Surgeons--Pakistan.

Recommended Citation

Naz, N., Samdani, A. J. (2011). Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.. JCPSP: Journal of the College of Physicians and Surgeons--Pakistan., 21(6), 382-383.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_med_med/425