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Table. 1.

Table. 1.

Comparison of allele categorization between FA+SB and TP-PCR

FA+SB TP-PCR Concordance (%)

FM PM INT NL
FA PM (55–80) 5 100
INT (45–54) 1 4 80
NL (< 45) 432 100
SB FM (> 200) 9 100
PM (80–200) 7 100
Total 9 13* 4 432 458 (99.8)

*12 of 13 PM in TP-PCR were identified in the same manner in FA and SB. In FA, five 5 were identified as INT, and then one INT in FA showed a discrepancy in TP-PCR results as PM.

Abbreviations: FA, fragment analysis; SB, Southern bBlotting; TP-PCR, triplet repeat primed PCR; NL, normal allele; INT, intermediate (allele); PM, premutation (allele); FM, full mutation (allele).

Ann Lab Med 2021;41:394~400 https://doi.org/10.3343/alm.2021.41.4.394

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