七例睾丸女性化综合征患者雄激素受体基因突变的研究  

Studies on mutations of androgen receptor gene of seven patients with testicular feminization syndrome

作　　者：陈光椿[1] 卢建[1] 徐晓春[1] 张金山[1] 宋亮年[1] 徐仁宝[1] 

机构地区：[1]第二军医大学基础医学部病理生理学教研室

出　　处：《第二军医大学学报》1996年第3期205-209,共5页Academic Journal of Second Military Medical University

摘　　要：目的：探讨睾丸女性化（ＴＦＭ）综合征发病的分子机理。方法：运用聚合酶链式反应－单链构象多态性（ＰＣＲ－ＳＳＣＰ）分析结合双链ＤＮＡ循环测序法，对７例ＴＦＭ患者的雄激素受体（ＡＲ）基因外显子Ｂ～Ｈ进行突变检测。结果：发现３例患者分别在ＡＲ基因外显子Ｅ或Ｇ有错义突变，导致ＡＲ雄激素结合区（ＡＢＤ）氨基酸的改变。还有１例患者外显子Ｇ在行ＳＳＣＰ分析时有泳动变位，强烈提示有突变，目前正在进一步做序列分析。其余３例患者外显子Ｂ～Ｈ行ＳＳＣＰ分析未见有异常。结论：ＡＲ基因突变是导致ＴＦＭ的主要原因，本研究结果还为ＡＲ结构与功能关系的研究提供了有价值的资料。Objective:To further study the molecular mechanism of testicular feminization(TFM) syndrome.Methods: The exons B～H of androgen receptor(AR) gene of seven Chinese patients with TFM were analyzed by a combination of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)and direct DNA double strands cycle sequencing. Results: Point mutations within exons E or G of AR gene were identified in three patients, respectively, and all mutations resulted in amino acid substitutions in androgen binding domain of AR. Mobility shift of PCR fragment in exon G of another patient was also found, and no change in exons B～H had been found in other three patients. Conclusion: Mutations in the AR gene are associated with TFM. This study provides valuable information for probing the relationship of the structure and function of AR.

关 键 词：睾丸女性化 综合征 受体 雄激素 基因突变 PCR 

分 类 号：R697.220.2[医药卫生—泌尿科学]