Figure 4.

Electropherogram of the semiquantitative amplification of exon A/B comprising the pentanucleotide repeat polymorphism. A, PCR amplification of the heterozygous father; B, PCR amplification of the heterozygous mother; C, PCR amplification of the mother’s genomic DNA after the overnight digestion with HpaII enzyme. Note that the amplification of the short allele (allele with two repeats) relative to the long allele (allele with three repeats) is less intense in the mother than the father. This short allele is the only one amplified after HpaII digestion, indicating that the deletion is present in the maternally inherited chromosome in the mother. The numbers under peaks represent the size of the amplicon (top) and the height of the peak (bottom).