Reversion mosaicism of NEMO. (A) Human androgen receptor trinucleotide repeat polymorphism. Cells from the patient's mother (lanes 1, 6, and 7), the patient's father (lane 2), and the patient (PBMCs, lane 3; EBV-transformed cells, lane 4; and HTLV-I-transformed cells, lane 5) were used as templates. The patient's cells all had the same allele, which matched one of his mother's. This allele was methylated and inactivated in the mother, which was shown by an X-inactivation assay using HpaII (with HpaII, lane 7; without HpaII, lane 6). (B) A single-nucleotide polymorphism in the pseudogene delta NEMO in the patient and his mother. The mother is heterozygous G/C, whereas both EBV- and HTLV-I-transformed cells from the patient had G. The arrows indicate the single-nucleotide polymorphism.