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We have developed a probe to be used for Southern blot analysis that reliably detects the AFF2 CCG triple repeat amplification. The presence of pre-mutated and fully expanded alleles in either gender, were confirmed by Southern blot analysis, which also enabled exclusion of methylation or repeat number mosaics as well as PCR failure. The use of this probe has been recommended as suitable for genotyping of pre-mutations, full mutations, and mosaics specifically for individuals presented for FRAXA screening with negative results to determine FRAXE status.
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