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Heterozygous female alleles produce an uninterrupted series of triplet repeat products that indicate the presence of a longer FMR1 allele and thus are readily distinguished from homozygous alleles. Note that PCR/CE of homozygous alleles (top) lack the characteristic and reproducible repeat primed signature (inset) of heterozygous alleles (bottom). FM, gene-specific PCR products that result from amplification of full mutation alleles.
