尿道下裂患者MID1基因突变的研究

Mutation analysis of MID1 gene in patients with hypospadias

目的:探讨MID1基因在尿道下裂发病中的作用。方法:收集96例先天性尿道下裂患者外周静脉血,提取DNA,采用PCR扩增直接测序的方法检测MID1基因全部外显子序列。结果:在2个患者中发现2种突变,位于第一外显子的T64T同义突变和位于第九外显子的A620V错义突变,均没有报道过。结论:MID1基因在尿道下裂的发病中并不起主要作用。

Objectlve：To explore possible molecular mechanism of hypospadias and relationship of the mutation of MID1 gene to hypospadias. Methods： 96 blood samples from the patients with hypospadias were obtained and DNA was estracted from blood leukocytes. Polymerase chain reaction and direct sequencing were performed to analyze the coding regions of MID1 gene. Results;2 mutations were detected from 2 cases. There are 1 synonymous, 1 missense, and both are novel. Conclusions：It is not an important factor of MID1 gene in pathogenesis of hypospadias.