AIS大家系的AR突变效应分析

目的：分析雄性激素不敏感综合征（AIS）大家系的AR突变效应。方法：从AIS患者外周血中将基因组DNA提取出来,以特异的引物聚合酶联反应（PCR）扩张雄激素受体（AR）基因,单链构象多态性分析（SSCP）扩增产物,将突变的外显子筛选出来,然后对其直接进行PCR产物测序。结果：所选取的8例人员中,有2例AIS患者缺失AR基因2号外显子,其余6例存在外显子电泳条带,经过基因测序,发现其符合正常AR基因。结论：本研究方法简便实用,在临床诊断和研究AIS中具有极为有益的应用。

Analysis of AR Mutations Effect in AIS Pedigree

Objective：To analyze AR mutation effect of androgen insensitivity syndrome（AIS） pedigree.Method：Genomic DNA was extracted from AIS patients,androgen receptor（AR） gene was extended by polymerase chain reaction（PCR） with specific primer,product was amplification by single strand conformation polymorphism（SSCP）,and the mutation exon was screened out,then it was sequenced directly by PCR products.Result：Among the selected 8 patients,2 patients with AIS was on the 2nd AR gene deletion in exon,and the remaining 6 cases exon staff electrophoretic bands,through gene sequencing,it met the normal AR gene.Conclusion：The method is simple and practical.It has very useful application in the clinical diagnosis and research of the AIS.