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目的 探讨完全型雄激素不敏感综合征 (complete androgen insensitivity syndrome,c AIS)发病的分子机理 ,并研究雄激素受体 (androgen receptor,AR)结构、功能及其与临床表现的关系。方法 用银染聚合酶链反应 -单链构象多态性 (polymerase chain reaction- single strand conformation polymorphism,PCR- SSCP)及 PCR产物直接测序的方法 ,对 1例完全型 AIS患者 AR基因外显子 B～H分别进行了研究。结果 外显子 F片段在 SSCP分析时有泳动变位 ,经测序 ,突变发生在内含子 5与外显子 F交界处 G33 46→T。结论 为首例发现的 AR基因剪接受点突变 ,GU- AG的高度保守对于维持 AR的正常功能非常重要
Objective To investigate the molecular mechanism of complete androgen insensitivity syndrome (c AIS) and to study the relationship between the structure and function of androgen receptor (AR) and its clinical manifestations. Methods One case of complete AIS patients with AR gene exon B (PCR-SSCP) and PCR products was sequenced. ~ H were studied. Results The exon F fragment showed a motile shift in SSCP analysis. After sequencing, the mutation occurred at the junction of intron 5 and exon F G33 46 → T. CONCLUSIONS: The first case of point mutations in the AR gene that were found to be spliced by AR gene was highly conserved for maintaining the normal function of AR