生殖医学杂志

雄激素通过靶器官上特异的雄激素受体而起作用，因雄激素受体的异常而导致雄激素的作用障碍，称雄激素不敏感综合征。作者分析了４例完全型雄激素不敏感综合征患者雄激素受体基因的突变。从雄激素不敏感综合征患者外周血中提取基因组ＤＮＡ，以特异的引物对雄激素受体基因进行聚合酶链反应（ＰＣＲ）扩增，对扩增产物进行单链构象多态性分析（ＳＳＣＰ），筛选出突变的外显子，对突变的外显子直接进行ＰＣＲ产物测序。通过ＰＣＲ－ＳＳＣＰ检查发现，３例患者在外显子Ｅ及１例在外显子Ｈ上有突变。测序证实前３例患者出现点突变，形成提前终止密码。另１例在外显子和内含子交界处插入ＡＴ两个碱基。提前终止密码形成可能是雄激素不敏感综合征的常见机制，本结果进一步提供了这方面的证据。迄今尚未见在拼接部位５’端同时插入两个碱基导致剪切异常引起人完全型雄激素不敏感综合征的报道。本研究方法简便实用，可用于雄激素不敏感综合征的临床诊断和基础研究。

bjectives:To study the androgen receptor(AR)gene mutations in Chinese patients with complete an-drogen insensitivity syndrome(CAIS ).Design:Genomic DNA in patients with CAIS were extracted from peripheral blood,the exons of AR gene were amplified by the polymerase chain reaction(PCR),mutated exons were screened by the single strand conformation polymorphism(SSCP)and directly sequenced. Patients:Four unrelated individuals with CAIS.Results:Exons two to eight were grossly intact in all study subjects using PCR-agarose electrophoresis, while SSCP revealed that three patients had a different pattern of electrophoresis in exon E and one had a change in exon H comparing to normal control.Sequencing of these four exons confirmed three different point mutations in exon E leading to formation of prematrue stop codon,the other had two nucleotides(A and T)insertion in splicing site of exon H and intron 7resulting in abnormal splicing. Conclusion:The mutations causing CAIS were divergent and complicated.The formation of premature stop codon seemed to be one of the common mechanism of CAIS.The insertion of two nucleotides in splicing site of intron-exon has not been previously identified in the human AR gene in patients with CAIS.