Department of Urology, Renji Hospital, School of Medicine,Shanghai Jiaotong University, Shanghai, 200127, China.
Department of Urology, Renji Hospital, School of Medicine,Shanghai Jiaotong University, Shanghai, 200127, China,
Front Biosci (Landmark Ed). 2017 Mar 1;22(7):1173-1176. doi: 10.2741/4540.
Hypospadias is one of the most common congenital malformations among children. Both gene mutations and environmental factors are thought to be involved in the development of hypospadias. The mastermind-like domain-containing 1 gene (, formerly ) is a new candidate gene and its mutation has been shown in some cases of hypospadias. Here, by direct sequencing of PCR products, we assessed and found mutations that occur in 220 sporadic cases of hypospadias. The mutations p.N589S (c.1766A>G) was found at a significantly higher rate among patients with hypospadias.
尿道下裂是儿童中最常见的先天性畸形之一。基因突变更和环境因素都被认为与尿道下裂的发生有关。含有类脑蛋白结构域的 1 号基因（以前称为）是一个新的候选基因，其突变已在一些尿道下裂病例中被发现。在这里，我们通过对 PCR 产物的直接测序，评估并发现了 220 例散发性尿道下裂病例中发生的突变。在尿道下裂患者中，发现 p.N589S（c.1766A>G）突变的发生率明显更高。
