PCR-SSCP银染色法检测尿道下裂患儿雄激素受体基因突变

Androgen receptor gene mutation in children with hypospadias

目的 研究尿道下裂的发生与雄激素受体基因突变间的关系。方法 运用盐析法从２７ 例不同类型尿道下裂患儿外周血中提取基因组ＤＮＡ，然后通过聚合酶链反应单链构象多态性分析（ＰＣＲＳＳＣＰ） 银染色法检测雄激素受体基因第２ 和第８ 外显子基因突变情况。结果 １ 例会阴型尿道下裂合并双隐睾、１ 例阴茎阴囊型尿道下裂患儿检出雄激素受体基因第８ 外显子突变，未发现第２ 外显子存在基因突变。结论 雄激素受体基因突变可能与尿道下裂的发生有关，并可能与严重尿道下裂的发生关系更为密切。

Objective To evaluate the status of androgen receptor gene in children with hypospadias.Methods Genomic DNA were extracted from peripheral blood leucocytes of 27 boys with various degree of hypospadias. Androgen receptor gene mutations (exons 2 and 8) were identified by silver staining of single strand conformation polymorphism analysis of polymerase chain reaction (PCR SSCP). Results Of them, 2 patients with severe hypospadias (one with perineal hypospadias and bilateral cryptorchidism, one with penoscrotal hypospadias) were found exon 8 androgen receptor gene mutation. No exon 2 mutation was found.Conclusion Mutation of androgene receptor gene may be associated with severe hypospadias.