Table 1.
Range of expansion | Genotypes (CAG) | N | Standard PCR | PCR- Southern | STR- PCR |
---|---|---|---|---|---|
Normal | 22/22 | 25 | + | n.d. | + |
22/23 | 4 | + | n.d. | + | |
22/25 | 1 | + | n.d. | + | |
22/27 | 1 | + | n.d. | + | |
22/29 | 1 | + | n.d. | + | |
22/32 | 1 | + | n.d. | +* | |
22/34 | 1 | + | n.d. | +* | |
Common | |||||
mutations | 22/37 | 1 | + | n.d. | +* |
22/38 | 1 | + | n.d. | +* | |
22/39 | 2 | + | n.d. | +* | |
22/40 | 1 | + | n.d. | +* | |
22/41 | 1 | + | n.d. | +* | |
22/45 | 1 | + | n.d. | + | |
22/47 | 1 | + | n.d. | + | |
22/49 | 2 | + | n.d. | + | |
22/52 | 1 | ± | n.d. | + | |
22/53 | 1 | ± | n.d. | + | |
Rare large | |||||
mutations | 23/∼200 | 1 | − | + | + |
22/∼350 | 1 | − | + | + |
The fluorescent STR-primed PCR could not correctly classify the profile in the normal or expanded range.
PCR results on the three right columns refer to the larger allele. + and − indicate the ability of a technique to identify an expansion. When ± is present, the expansion was not always detected.
N, number of tested subjects. n.d., not done.