畸精子症病人的睾丸特异性表达基因SPEM1筛查分析

Screening Mutation of SPEM1 Gene in Chinese with Teratozoospermic

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。

Objective： To investigate the relationship between the point mutation of SPEM1 gene and teratozoospermie 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. Conehsions： SPEM1 gene may not be a susceptibility gene for those patients with teratozoospermic in Chinese population.