COMPARISON OF SINGLE-STRAND CONFORMATION POLYMORPHISM AND HETERODUPLEX ANALYSIS FOR DETECTION OF MUTATIONS IN CHARCOT-MARIE-TOOTH TYPE-1 DISEASE AND RELATED PERIPHERAL NEUROPATHIES
E. Nelis 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, European journal of human genetics, 4(6), 1996, pp. 329-333
To compare the sensitivity of the mutation detection techniques single
-strand conformation polymorphism analysis (SSCP) and heteroduplex ana
lysis (HA), we analyzed a cohort of 73 patients with a diagnosis of a
demyelinating neuropathy, but without the CMT1A duplication, for mutat
ions 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 sensitiv
ity of both techniques.