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目的分析TSG23基因在非梗阻性无精子症患者中单核苷酸变异。方法采用第二代高通量测序方法对临床收集的776例非梗阻性无精子症患者和709例已正常生育男性的外周血DNA进行TSG23基因外显子捕获测序;采用传统的Sanger测序技术对第二代高通量测序发现的新的突变位点进行验证。结果经过对测序质量控制和外显子测序结果分析筛选,有757例患者和709例的测序结果纳入生物信息学分析,共获得7个突变位点,其中3个为同义突变,4个为错义突变,有4个位点为新发现突变位点;所有位点中非梗阻性无精子症患者特有的突变位点1个,为同义突变,已育正常男性特有的突变位点2个,均为错义突变。结论现有的检测结果显示,TSG23基因的单核苷酸变异与非梗阻性无精子症的发生无明显的相关性。
Objective To analyze the single nucleotide polymorphisms of TSG23 gene in patients with non-obstructive azoospermia. Methods The second generation high-throughput sequencing method was used to detect TSG23 gene exon in 776 non-obstructive azoospermia patients and 709 normal fertile men who were collected clinically. Sequencing was performed using the conventional Sanger sequencing technique The second generation of high-throughput sequencing found new mutation sites for validation. Results After screening and sequencing of quality control and exon sequencing results, 757 patients and 709 cases of sequencing results were included in the bioinformatics analysis, a total of seven mutations were obtained, of which three were synonymous mutations, four were Missense mutations, 4 sites for the newly discovered mutation sites; all sites in patients with non-obstructive azoospermia mutations in a unique site for the synonymous mutations, fertile normal male-specific mutation sites 2 A, are missense mutations. Conclusion The results of the current tests show that there is no significant correlation between single nucleotide polymorphism of TSG23 gene and the incidence of non-obstructive azoospermia.