非梗阻性无精子症患者TSG23基因的单核苷酸变异分析

Single nucleotide variation of TSG23 gene in patients with nonobstructive azoospermia

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 variation （SNV） of TSG23 gene in patients with non obstructive azoospermia. Methods All the exons of TSG23 gene in 776 patients diagnosed with non-obstructive azoospermia and 709 proven fertile men were sequenced. The novel mutations were validated by PCR and Sanger sequencing analysis. Results After the quality control for sequencing results, the data from 757 patients and 709 proven fertile men were analyzed by bioinformatics methods. Seven mutations were identified, including 3 synonymous mutations and 4 missense mutations, and 4 of them were novel mutations. One synonymous mutation was specific in non-obstructive azoospermia patients, and two missense mutations were specific in proven fertile men. Conclusion According to the analysis of SNV data on TSG23 gene, All the data indicates SNV of gene TSG23 is not associated with ocurrence of non-obstructive azoospermia.