Abstract
To compare the sensitivity of the mutation detection techniques single-strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA), we analyzed a cohort of 73 patients with a diagnosis of a demyelinating neuropathy, but without the CMT1A duplication, for mutations in the coding region of the myelin genes PMP22, MPZ and Cx32. In total, 21 samples showed 13 distinct altered migration patterns by one or both methods. Ten altered patterns were detected by both SSCP and HA, two were false negative by HA, and one was false negative by SSCP. Our results suggest that either technique can be useful for mutation detection, but a combination of factors appears to affect the sensitivity of both techniques.
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Acknowledgements
This work was supported in part by a Special Research Fund of the University of Antwerp and grants from the National Fund for Scientific Research, Belgium, to C.V.B., the National Institute of Neurological Disorders and Stroke, the National Institute of Health (R01 NS27042), and the Muscular Dystrophy Association to J.R.L. E.N. is a research assistant of the National Fund for Scientific Research, Belgium.
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Nelis, E., Warner, L.E., De Vriendt, E. et al. Comparison of Single-Strand Conformation Polymorphism and Heteroduplex Analysis for Detection of Mutations in Charcot-Marie-Tooth Type 1 Disease and Related Peripheral Neuropathies. Eur J Hum Genet 4, 329–333 (1996). https://doi.org/10.1159/000472227
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DOI: https://doi.org/10.1159/000472227
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