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 Similar articles in PubMed
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 Ogino, S.
Right arrow Articles by Wilson, R. B.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ogino, S.
Right arrow Articles by Wilson, R. B.
JMD 2002, Vol. 4, No. 1
Copyright © 2002 American Society for Investigative Pathology & Association for Molecular Pathology

Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center

Shuji Ogino, Debra G. B. Leonard, Hanna Rennert and Robert B. Wilson

From the Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania

Approximately 94% of spinal muscular atrophy (SMA) patients lack both copies of SMN1 exon 7. We report our SMA genetic testing experience (total 1281 cases), using SMA linkage analysis (32 families), SMA diagnostic testing by PCR-RFLP (restriction fragment length polymorphism) to detect the homozygous absence of SMN1 exon 7 (and exon 8) (533 cases), and an assay to determine copy number of SMN1 exon 7 (SMN1 gene dosage analysis) (716 cases). SMN1 gene dosage analysis is used for SMA carrier testing as well as for the confirmation of a heterozygous SMN1 deletion in symptomatic individuals who do not lack both copies of SMN1. We conclude that comprehensive SMA testing, including SMN1 deletion analysis, SMN1 gene dosage analysis, and linkage analysis, offers the most complete evaluation of SMA patients and their families.




This article has been cited by other articles:


Home page
 NeurologyHome page
A. Botta, A. Tacconelli, I. Bagni, E. Giardina, E. Bonifazi, A. Pietropolli, M. Clementi, and G. Novelli
Transmission ratio distortion in the spinal muscular atrophy locus: Data from 314 prenatal tests
Neurology, November 22, 2005; 65(10): 1631 - 1635.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
S. Ogino and R. B. Wilson
Quantification of PCR Bias Caused by a Single Nucleotide Polymorphism in SMN Gene Dosage Analysis
J. Mol. Diagn., November 1, 2002; 4(4): 185 - 190.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2002 by the American Society for Investigative Pathology and the Association for Molecular Pathology.