| 尿道下裂患者SRD5A2基因突变的研究 |
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| 引用本文： | 徐家杰,李森恺,李强,范巨峰,王艳萍,李养群,沈岩. 尿道下裂患者SRD5A2基因突变的研究[J]. 中华整形外科杂志, 2006, 22(2): 139-141 |
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| 作者姓名： | 徐家杰 李森恺 李强 范巨峰 王艳萍 李养群 沈岩 |
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| 作者单位： | 1. 100041,北京,中国医学科学院中国协和医科大学整形外科医院
2. 中国医学科学院中国协和医科大学基础所生化和分子生物学实验室 |
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| 基金项目： | 卫生部临床学科重点项目基金（20010409） |
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| 摘 要： | 目的 探讨SRD5A2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SRD5A2基因全部外显子序列。结果 96例中有14例发现了8种突变，5种错义突变，1种同义突变，1种无义突变，1种移码突变。分别位于第1、4、5外显子。其中Gln6stop，His232His，Phe234Leu及移码突变没有报道过。结论 第4外显子是突变发生的热点区域，约1／10尿道下裂患者存在不同程度的SRD5A2基因结构异常。
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| 关 键 词： | 尿道下裂 SRD5A2基因 基因突变 |
| 收稿时间： | 2004-09-21 |
| 修稿时间： | 2004-09-21 |
Mutation analysis of SRD5A2 gene in patients with hypospadias |
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| XU Jia-jie,LI Sen-kai,LI Qiang,Fan Ju-feng,WANG Yan-ping,LI Yang-qun,SHEN Yan. Mutation analysis of SRD5A2 gene in patients with hypospadias[J]. Chinese journal of plastic surgery, 2006, 22(2): 139-141 |
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| Authors: | XU Jia-jie LI Sen-kai LI Qiang Fan Ju-feng WANG Yan-ping LI Yang-qun SHEN Yan |
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| Affiliation: | Plastic Surgery Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100041, China |
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| Abstract: | Objective To explore possible molecular mechanism of hypospadias and relationship of the mutation of SRD5A2 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 SRD5A2 gene. Results 8 mutations were detected from 14 cases, including 5 missense mutations, 1 synonymous mutation, 1 nonsense mutation and 1 frameshift mutation. The mutations are in 1st, 4th and 5th exon. Gln6stop, His232His, Phe234Leu and frameshift mutations are novel. Conclusions Exon 4 is a hot spot region of mutation within SRD5A2 gene, and about 10 percent of hypospadiac patients complicated with SRDSA2 dysfunction or deficiency. |
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| Keywords: | Hypospadias SRD5A2 gene Gene mutation |
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