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目的:尿道下裂是男性外生殖器最常见的先天性畸形之一,本文旨在探讨MAMLD1基因突变在中国人群尿道下裂发病中的作用。方法:收集150例(年龄0.5～6岁)国内尿道下裂患儿外周静脉血作为实验组,同时抽取120例(年龄0.5～6岁)正常儿童的外周静脉血作为对照组,抽取DNA,对MAMLD1基因多态性进行直接测序并比对分析。结果:发现一个已知的错义突变p.N589S,在实验组中12/150例,对照组中发现4/120例,突变率8.0%比3.0%,两组突变率无统计学差异(P>0.05);一个未报道的错义突变p.P567S,实验组中发现4/150例,对照组中发现3/120例,两组突变率2.7%比2.5%,两组比较无统计学差异(P>0.05)。结论:本研究再次证明了在突变相关性研究中重复试验的重要性,该结果可能发现了在不同人群中易感基因的差异。结果未发现MAMLD1基因的多态性和中国人群尿道下裂的发生有明显联系,MAMLD1基因可能不是中国人群尿道下裂发生的候选基因。
OBJECTIVE: Hypospadias is one of the most common congenital malformations of male genitalia. This paper aims to investigate the role of MAMLD1 gene mutation in the pathogenesis of hypospadias in Chinese population. Methods: Peripheral venous blood from 150 cases (age 0.5-6 years) of children with hypospadias was collected as experimental group. Peripheral venous blood of 120 normal children (aged 0.5-6 years) was collected as control group, and DNA was extracted. MAMLD1 gene polymorphism was directly sequenced and compared. RESULTS: A known missense mutation, p.N589S, was found in 12 of 150 patients in the experimental group and 4/120 in the control group, with a mutation rate of 8.0% vs 3.0%. There was no significant difference in the mutation rates between the two groups (P > 0.05). One unreported missense mutation, p.P567S, found 4/150 in the experimental group and 3/120 in the control group, with a mutation rate of 2.7% versus 2.5% in both groups, with no significant difference between the two groups (P> 0.05). CONCLUSIONS: This study again demonstrates the importance of repeat trials in a mutation-related study that may reveal differences in susceptibility genes among different populations. The results did not find the polymorphism of MAMLD1 gene and Chinese people had a clear relationship between the occurrence of hypospadias, MAMLD1 gene may not be the Chinese population of hypospadias gene candidate.