An acceptor-splice-site mutation responsible for complete androgen insensitivity syndrome
10.3760/j.issn:1003-9406.2001.01.005
- VernacularTitle:雄激素受体基因剪接受点突变G3346→T引起一例完全型雄激素不敏感综合征
- Author:
Wei ZHANG
1
;
Xiuqi LI
Author Information
1. Shanghai Medical University
- From:
Chinese Journal of Medical Genetics
2001;18(1):14-16
- CountryChina
- Language:Chinese
-
Abstract:
Objcetive 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 G3346 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.
