Figure 1.

Amplification of the AR gene exon 2 in family members. Lanes 1 and 2 = No amplification in the CAIS patients (III-B and III-H). Lane 3 = Intermediate amplification in an obligate carrier mother of a CAIS patient (II-B).Lanes 4 to 6 = Strong amplification in three normal family members. Lane 5 is a normal male family member. PCR amplification and sequencing of AR gene exons in the probands showed a deletion of exon 2. DNA sequencing confirmed that there was no point mutation, except the deletion of exon 2, and showed that the remaining exons and introns were intact in the AR genes of the probands. (Note: The pedigrees with complete androgen insensitivity syndrome (CAIS); Black circles = CAIS 46, XY individuals; open circles = normal females; double open circles = obligate carrier women; open squares = normal males; crossed black circles = deceased individuals suspected of having CAIS.)