[An acceptor-splice-site mutation responsible for complete androgen insensitivity syndrome].
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.


CONCLUSIONS
Highly conserved GU-AG structure at splice site plays a crucial role in maintaining normal function of AR.
Zhang
W
W
Department of Medical Genetics, Shanghai Medical University, Shanghai, 200032 P.R. China. JZUO@shmu.edu.cn
Li
X
X
D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011944:Receptors, Androgen / Q000235:genetics*
D011944:Receptors, Androgen