【摘 要】
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目的：探讨一例完全型雄激素不敏感综合征(complete androgen insensitivity syndrom,CAIS)患者AR基因的临床和分子遗传特征.方法：收集患者临床资料,提取患者外周血单个核细
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目的：探讨一例完全型雄激素不敏感综合征(complete androgen insensitivity syndrom,CAIS)患者AR基因的临床和分子遗传特征.方法：收集患者临床资料,提取患者外周血单个核细胞基因组DNA,用特异性引物-聚合酶链反应(PCR)行雄激素受体(androgen receptor,AR)基因8个外显子扩增,扩增产物纯化后行直接Sanger测序,结果与Genebank比对.结果：该患者AR基因1号外显子存在一个移码突变c.1067delC,导致从第356位密码子后读码框被打乱,并在478位引入终止密码子(原肽链全长921个氨基酸),可能会造成该AR基因的mRNA序列异常被降解,或产生截短的蛋白.该位点在其另外一名家系成员中检出,患者的母亲为该突变位点的携带者.结论：c.1067delC是一种导致CAIS的AR基因新的突变方式,丰富了AR基因突变谱,为患者的临床治疗及家族的产前诊断提供了依据.
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