摘要
目的探讨Cxorf6基因突变与单纯性尿道下裂的相关性。方法采用聚合酶链反应（PCR）及基因测序技术，分别对70例单纯男性尿道下裂患者和40例健康正常对照的Cxorf6基因序列进行分析。结果其中1例尿道下裂患者Cxorf6基因第3外显子802（T—C）致无意义突变；另1例尿道下裂患者Cxorf6基因第3外显子第620位点缺失一个碱基G致移码突变；另1例尿道下裂患者Cxorf6基因在第3外显子第663位插入一个碱基G致移码突变。在40例正常对照组中未发现Cxorf6基因存在突变。结论Cxorf6基因突变可能也是中国人群单纯性尿道下裂患者的易感基因之一。
Objective To investigate the correlation between Cxorf6 gene mutation and hypospadias. Methods Polymerase chain reaction （PCR） and gene sequencing were used to analyze the sequence of Cxorf6 gene in 70 patients with hypospadia and 40 healthy controls. Results A nonsense mutation was found in exon 3 of Cxorf6 gene （802 T → C） in 1 patient with hypospadiac, and a frameshift mutation in exon 3 of Cxorf6 gene （620 del G） in 1 case with hypospadiac, and another frameshift mutation in exon 3 of Cxorf6 gene （633 ins G） in another patient with hypospadia. No mutations were found in other 67 cases with hypospadiac and 40 controls. Conclusion The mutations of Cxorf6 gene might be one of the susceptible genes for hypospadiacs.
出处
《中国男科学杂志》
CAS
CSCD
北大核心
2012年第9期3-6,共4页
Chinese Journal of Andrology
基金
基金项目资助：国家自然科学基金（NO.81170560）
