Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2010 Oct;20(10):644-8.
doi: 10.2010/JCPSP.644648.

Molecular studies of ichthyosis vulgaris in Pakistani families

Affiliations

Molecular studies of ichthyosis vulgaris in Pakistani families

Azam Jah Samdani et al. J Coll Physicians Surg Pak. 2010 Oct.

Abstract

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: Amplification of 1.5 kb FLG gene fragment was successful in four families while one family showed amplification of the gene fragment in 3 members (one affected and two normal). Two families showed no amplification.

Conclusion: The results obtained during this study suggested the possibility of the R501X mutation as being one of the major causes of ichthyosis vulgaris in Pakistan. In addition, the study also revealed the possibility of the presence of novel FLG gene mutations in our population.

PubMed Disclaimer

Publication types

LinkOut - more resources