| 畸精子症病人的睾丸特异性表达基因SPEM1筛查分析 |
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| 引用本文： | 邱庆明,刘刚,李维娜,史秋雯,朱复希,卢光琇.畸精子症病人的睾丸特异性表达基因SPEM1筛查分析[J].现代生物医学进展,2009,9(17). |
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| 作者姓名： | 邱庆明 刘刚 李维娜 史秋雯 朱复希 卢光琇 |
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| 作者单位： | 中南大学生殖与干细胞工程研究所&人类干细胞国家工程研究中心,湖南,长沙,410008 |
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| 基金项目： | 国家重点基础研究发展规划(973计划) |
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| 摘 要： | 目的:探讨睾丸特异性表达基因SPEM1突变与畸精子症患者之间的关系.方法:收集从2005年4月至2007年3月临床上不明原因的畸精症患者113份外周血标本以及100份正常生育能力男子的外周血标本,抽提其DNA.然后采用PCR技术、变性高效液相色谱技术(DHPLC)以及测序等手段对全部DNA样本进行该基因的突变筛查.结果:在畸精症患者中发现1个新的未见报道的多态性位点;尚未发现有基因突变或微缺失.结论:SPEM1基因突变或缺失不是引起本组畸精子症病人的主要致病基因.该基因在对畸精子症所致不育的诊断价值尚需进一步研究.
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| 关 键 词： | SPEM1基因 畸精症 突变筛查 单核苷酸多态性 |
Screening Mutation of SPEM1 Gene in Chinese with Teratozoospermic |
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| QIU Qing-Ming,LIU Gang,LI Wei-Na,SHI Qiu-Wen,ZHU Fu-Xi,LU Guang-Xiu.Screening Mutation of SPEM1 Gene in Chinese with Teratozoospermic[J].Progress in Modern Biomedicine,2009,9(17). |
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| Authors: | QIU Qing-Ming LIU Gang LI Wei-Na SHI Qiu-Wen ZHU Fu-Xi LU Guang-Xiu |
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| Institution: | QIU Qing-Ming,LIU Gang,LI Wei-Na,SHI Qiu-Wen,ZHU Fu-Xi,LU Guang-Xiu (Institute of Human Reproduction and Stem Cell Engineering,Central South University,410078,Changsha,China) |
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| Abstract: | Objective: To investigate the relationship between the point mutation of SPEM1 gene and teratozoospermic males. Methods: Genomic DNA was extracted from peripheral blood sample of 113 patients with teratozoospermic and 100 fertile males controls. SPEM1 mutations were detected by using PCR, DHPLC and sequencing techniques. Results: Mutation or deletion of SPEM1 was not found and one polymorphisms was determined in the present series. Conclusions: SPEM1 gene may not be a susceptibility gene for those patients ... |
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| Keywords: | SPEM1 gene Teratozoospermic Mutation screening Single nucleotide polymorphism |
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