JMD Association for Molecular Pathology 2008 Annual Meeting
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Purchase Article
Right arrow View Shopping Cart
Services
Right arrow Similar articles in this journal
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Shi, Y.
Right arrow Articles by Gerard, G. F.
Right arrow Search for Related Content
PubMed
Right arrow Articles by Shi, Y.
Right arrow Articles by Gerard, G. F.
JMD 2007, Vol. 9, No. 1
Copyright © 2007 American Society for Investigative Pathology & Association for Molecular Pathology

Development of a Rapid, Reliable Genetic Test for Pseudoxanthoma Elasticum

Yanggu Shi*, Sharon F. Terry{dagger}, Patrick F. Terry{dagger}, Lionel G. Bercovitch{dagger}{ddagger} and Gary F. Gerard*

From Transgenomic, Incorporated, * Gaithersburg, Maryland; PXE International, Incorporated, {dagger} Washington, DC; and the Department of Dermatology, {ddagger} Brown Medical School, Brown University, Providence, Rhode Island

Mutations in the human ABCC6 gene cause pseudoxanthoma elasticum (PXE), a hereditary disorder that impacts the skin, eyes, and cardiovascular system. Currently, the diagnosis of PXE is based on physical findings and histological examination of a biopsy of affected skin. We have combined two simple, polymerase chain reaction (PCR)-based methods to develop a rapid, reliable genetic assay for the majority of known PXE mutations. After PCR amplification and heteroduplex formation, mutations in exon 24 and exon 28 of the ABCC6 gene were detected with Surveyor nuclease, which cleaves double-stranded DNA at any mismatch site. Mutations originating from deletion of a segment of the ABCC6 gene between exon 23 and exon 29 (ex23_ex29del) were detected by long-range PCR. Size analysis of digestion fragments and long-range PCR products was performed by agarose gel electrophoresis. The methods accurately identified mutations or the absence thereof in 16 affected individuals as confirmed by DNA sequencing. Fifteen patients had one or two point mutations, and two of these individuals carried the ex23_ex29del in their second allele. This mutation detection and mapping strategy provides a simple and reliable genetic assay to assist in diagnosis of PXE, differential diagnosis of PXE-like conditions, and study of PXE genetics.




This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
E. G Pfendner, O. M Vanakker, S. F Terry, S. Vourthis, P. E McAndrew, M. R McClain, S. Fratta, A.-S. Marais, S. Hariri, P. J Coucke, et al.
Mutation detection in the ABCC6 gene and genotype phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
J. Med. Genet., October 1, 2007; 44(10): 621 - 628.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2007 by the American Society for Investigative Pathology and the Association for Molecular Pathology.