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目的 建立一种简易、准确的2 型5α还原酶(SRD5α2)基因分析方法。方法 采用突变扩增系统,对23 例先天性尿道下裂患儿及正常标本进行SRD5α2 基因R227Q 突变分析,对阳性者进行DNA 测序证实。结果 23 例先天性尿道下裂患儿中,3 例为SRD5α2 基因R227Q 突变阳性(2 例为突变纯合子,1例为杂合子),与测序结果一致;其余及正常对照均为阴性。结论 此法简单、快速、准确、易于推广,可作为先天性尿道下裂中SRD5α2 基因突变的筛查方法。
Objective To establish a simple and accurate method for gene analysis of type 2 5α reductase (SRD5α2). Methods Twenty - three cases of congenital hypospadias and normal samples were analyzed by mutation amplification system. The R227Q mutation of SRD5α2 gene was confirmed by DNA sequencing. Results Of 23 cases of congenital hypospadias, 3 cases were positive for R227Q mutation of SRD5α2 gene (2 cases were homozygous mutation and 1 case was heterozygous), which was consistent with the sequencing results. The rest and normal controls were negative. Conclusion This method is simple, rapid, accurate and easy to popularize and can be used as a screening method for SRD5α2 gene mutation in congenital hypospadias.