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.
出处
《第二军医大学学报》
CAS
CSCD
北大核心
1996年第3期205-209,共5页
Academic Journal of Second Military Medical University
关键词
睾丸女性化
综合征
受体
雄激素
基因突变
PCR
testicular feminization syndrome
receptor,androgen
gene mutation
polymerase chain reactionsingle strand conformation polymorphism
