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Title: Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection

Abstract

Approximately one-third of Duchenne muscular dystrophy patients have undefined mutations in the dystrophin gene. For carrier and prenatal studies in families without detectable mutations, the indirect restriction fragment length polymorphism linkage approach is used. Using a multiplex amplification and heteroduplex analysis of dystrophin exons, the authors identified nonsense mutations in two DMD patients. Although the nonsense mutations are predicted to severely truncate the dystrophin protein, both patients presented with mild clinical courses of the disease. As a result of identifying the mutation in the affected boys, direct carrier studies by heteroduplex analysis were extended to other relatives. The authors conclude that the technique is not only ideal for mutation detection but is also useful for diagnostic testing. 29 refs., 4 figs.

Authors:
; ; ; ; ; ;  [1];  [2]
  1. Ohio State Univ., Columbus, OH (United States)
  2. Univ. of Rochester Medical Center, NY (United States)
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
86550
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 50; Journal Issue: 1; Other Information: PBD: 1 Mar 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENE MUTATIONS; DETECTION; MUSCLES; HEREDITARY DISEASES; NERVOUS SYSTEM DISEASES; ETIOLOGY

Citation Formats

Prior, T.W., Papp, A.C., Snyder, P.J., Sedra, M.S., Western, L.M., Bartolo, C., Mendell, J.R., and Moxley, R.T. Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection. United States: N. p., 1994. Web. doi:10.1002/ajmg.1320500115.
Prior, T.W., Papp, A.C., Snyder, P.J., Sedra, M.S., Western, L.M., Bartolo, C., Mendell, J.R., & Moxley, R.T. Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection. United States. doi:10.1002/ajmg.1320500115.
Prior, T.W., Papp, A.C., Snyder, P.J., Sedra, M.S., Western, L.M., Bartolo, C., Mendell, J.R., and Moxley, R.T. Tue . "Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection". United States. doi:10.1002/ajmg.1320500115.
@article{osti_86550,
title = {Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection},
author = {Prior, T.W. and Papp, A.C. and Snyder, P.J. and Sedra, M.S. and Western, L.M. and Bartolo, C. and Mendell, J.R. and Moxley, R.T.},
abstractNote = {Approximately one-third of Duchenne muscular dystrophy patients have undefined mutations in the dystrophin gene. For carrier and prenatal studies in families without detectable mutations, the indirect restriction fragment length polymorphism linkage approach is used. Using a multiplex amplification and heteroduplex analysis of dystrophin exons, the authors identified nonsense mutations in two DMD patients. Although the nonsense mutations are predicted to severely truncate the dystrophin protein, both patients presented with mild clinical courses of the disease. As a result of identifying the mutation in the affected boys, direct carrier studies by heteroduplex analysis were extended to other relatives. The authors conclude that the technique is not only ideal for mutation detection but is also useful for diagnostic testing. 29 refs., 4 figs.},
doi = {10.1002/ajmg.1320500115},
journal = {American Journal of Medical Genetics},
number = 1,
volume = 50,
place = {United States},
year = {Tue Mar 01 00:00:00 EST 1994},
month = {Tue Mar 01 00:00:00 EST 1994}
}
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