The diagnosis of CMT1A was based on the clinical presentation, abnormal nerve conduction velocities (<40 m/s), analysis of ratios obtained by Southern transfer between proximal CMT1A-REP and distal CMT1A-REP  and the allelic numbers of RM11-GT [131.
SOUTHERN TRANSFER ANALYSIS OF CMTIA PATIENTS AND HEALTHY CONTROLS
These methods correlate very well with Southern transfer analysis, and are much more convenient to use.
DETERMINATION OF B- AND T-CELL CLONALITY BY SOUTHERN TRANSFER ANALYSIS
Southern transfer analysis is a very sensitive and specific method for determining clonality and may detect a monoclonal population composing as little as 1-5% of the total cell population [3,7].
For Southern transfer analysis, DNA is first extracted and purified from the cells that are to be analyzed.
The Southern transfer approach for detecting B-cell gene rearrangements is shown schematically in Fig.
Analogous to Southern transfer methods, the application of PCR to detect B- and T-cell clonality involves evaluation of gene rearrangements in those segments of DNA that code for the variable regions of the immunoglobulin and TCR genes.
If analysis for B- or T-cell clonality is negative by PCR, Southern transfer analysis is performed, which will detect clonal B- or T-cell gene rearrangements in 80-90% of cases.
These differences can be explained by the high variability of semiquantitative assay procedures used in such studies, based mainly on Southern transfer or dot-blot analysis.
Results for DNA extracted from paraffin blocks of 25 breast primary tumors, which provided only limited quantities of variable degraded DNA unsuitable for Southern transfer analysis, were compared with those obtained with an already developed competitive PCR procedure.
c-erbB-2 amplification in human breast cancer cell lines as obtained with Southern transfer analysis and the TaqMan assay.