Zhuang Li-Kai, Fu Qi-Hua, Wang Jian, Sun Jie
Department of Urology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
Zhonghua Nan Ke Xue. 2012 Aug;18(8):727-30.
To investigate the role of the MAMLD1 gene mutation in the pathogenesis of hypospadias in the Chinese population.
We collected peripheral venous blood from 150 Chinese children with hypospadias (the case group) and another 120 normal healthy ones (the control group), aged 0.5 to 6 years. We obtained their DNA samples and performed DNA sequencing on the single-nucleotide polymorphisms of MAMLD1, followed by comparative analysis.
A known missense mutation polymorphism p. N589S was identified in 12 (8.0%) of the hypospadias patients and 4 (3.0%) of the normal controls, and a novel missense mutation polymorphism p. N567S was identified in 4 (2.7%) of the patients and 3 (2.5%) of the controls, neither with statistically significant differences between the two groups (P > 0.05).
The results re-emphasized the importance of replication in genetic association approaches, and might reveal a real difference in susceptibility genes among different populations. The single-nucleotide polymorphisms of MAMLD1 bear no obvious correlation with hypospadias, and MAMLD1 is not a candidate gene in its pathogenesis in the Chinese population.
探讨MAMLD1基因突变在中国人群尿道下裂发病机制中的作用。
收集150例0.5至6岁中国尿道下裂患儿（病例组）及120例正常健康儿童（对照组）的外周静脉血，获取其DNA样本，对MAMLD1单核苷酸多态性进行DNA测序并进行对比分析。
在12例（8.0%）尿道下裂患者及4例（3.0%）正常对照中鉴定出已知错义突变多态性p.N589S，在4例（2.7%）患者及3例（2.5%）对照中鉴定出新型错义突变多态性p.N567S，两组间差异均无统计学意义（P>0.05）。
研究结果再次强调了基因关联研究中重复验证的重要性，可能揭示不同人群中易感基因的真正差异。MAMLD1单核苷酸多态性与尿道下裂无明显相关性，在中国人群中MAMLD1不是尿道下裂发病机制中的候选基因。
