Objective: To study the molecular mechanism of androgen insensitivity syndrome (AIS) and the relationship among androgen receptor's molecular structure, function and clinical manifestation.
Methods: PCR-SSCP analysis was carried out to screen exons from B to H of androgen receptor(AR) gene in a cAIS patient for AR gene mutation; direct DNA sequencing of PCR product was performed to find out the location and the pattern of the mutation.
Results: A newly found point mutation G(3346) to T, which is located at intron 5-exon F acceptor splice site in the AR gene, was identified.
Conclusion: Highly conserved GU-AG structure at splice site plays a crucial role in maintaining normal function of AR.