Zhang W, Li X
Department of Medical Genetics, Shanghai Medical University, Shanghai, 200032 P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Feb;18(1):14-6.
To study the molecular mechanism of androgen insensitivity syndrome (AIS) and the relationship among androgen receptor's molecular structure, function and clinical manifestation.
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.
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.
Highly conserved GU-AG structure at splice site plays a crucial role in maintaining normal function of AR.
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