| 尿道下裂的MAMLD1基因研究 |
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| 引用本文： | 钱晨,林厚维,孙平,徐国峰,徐卯升,杨涛,耿红全.尿道下裂的MAMLD1基因研究[J].临床小儿外科杂志,2012,11(2):106-108,111. |
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| 作者姓名： | 钱晨 林厚维 孙平 徐国峰 徐卯升 杨涛 耿红全 |
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| 作者单位： | 1. 上海交通大学医学院附属新华医院小儿泌尿外科 上海市,200092
2. 上海交通大学医学院附属新华医院聋病分子学研究中心 上海市,200092 |
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| 基金项目： | 上海交通大学医工结合项目资助 |
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| 摘 要： | 目的分析尿道下裂患儿MAMLD1基因突变的比例，探讨该基因在尿道下裂发病中的作用。方法收集100例单纯尿道下裂患者进行MAMLD1基因检测，为实验组，随机选取健康人群来源的200条x染色体为对照组。直接测序检测MAMLD1基因编码区外显子的序列。结果发现2个位点碱基改变（c．1699C〉T，c．1985A〉G），其中C．1985A〉G为已报道的SNP；c．1699C〉T未报道过，通过Fisher精确概率法比较正常和尿道下裂患者中出现的频率，结果无统计学意义（P=0．625）。结论MAMLD1基因不是我国单纯尿道下裂发生的热点基因。c．1699C〉T是MAMLDl基因新发现的SNP。
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| 关 键 词： | 尿道下裂 基因 研究 |
Research of MAMLD1 gene in Hypospadias |
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| Affiliation: | QIAN Chen,LIN Hou-xiong, SUN Ping,et al. Xinhua Hospital Affiliated to Shanghai Jiaotong Univesity School of Medicine, Shanghai, 200092., China |
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| Abstract: | Objective Hypospadias is one of the most common congenital malformations of the male external genitalia with elusive etiology. Evidences indicate that MAMLD1 is mutated in 10% patients with isolated hypospadias. We directly sequenced the MAMLD1 gene in 100 sporadic Han ethnic patients with hypospadias and 200 X-chromosomes to further elucidate the role of this gene in hypospadias. Two different heterozygous nucleotide variations were identified. Of the 2 variations, one bad previously been reported as a polymorphism ： c. 1985A 〉 G ;One new variation： c. 1699C 〉 T. Both of these variations were also found in control X-chromo- somes. In a word, these findings, together with the indicated roles of the gene, imply that it should not be important gene for Han ethnic patients with hypospadias and c. 1699C 〉 T is a new SNP. |
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| Keywords: | Hypospadias Genes Research |
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