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  • Title: [An acceptor-splice-site mutation responsible for complete androgen insensitivity syndrome].
    Author: Zhang W, Li X.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Feb; 18(1):14-6. PubMed ID: 11172634.
    Abstract:
    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.
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