唯支持细胞综合征的单基因病因研究进展

刘 万涛, 赵 善超
南方医科大学南方医院泌尿外科

摘要

目的：唯支持细胞综合征（SCOS）是非梗阻性无精子症最严重的病理类型之一，SCOS 的发病机制目前为止还不清楚，治疗上也因缺乏有效的治疗靶点而进展缓慢，本研究通过对已有文献报道的SCOS相关文献进行回顾，对SCOS相关单基因病因做一综述。方法：本研究通过检索数据库文献，建立SCOS单基因相关的高置信度基因列表，并通过蛋白互作网络分析、KEGG富集分析等对SCOS相关基因进行系统介绍。结果：本研究通过回溯文献，共发现16个基因在SCOS单基因研究中被报道，我们利用这16个基因建立蛋白相互作用网络发现部分基因调控蛋白(9/16；52.25%)在功能上是存在相互作用，已经明确与SCOS相关的基因之间多数存在相互作用（3/4；75%），50%的SCOS相关基因与细胞周期异常有关。结论：基于检索结果，我们共发现已有文献报道的16个基因与SCOS发生发展相关，其中，WT1、TEX14、FANCM、NR5A1这4个基因与SCOS 显著相关。

关键词

唯支持细胞综合征；致病基因；互作网络

参考

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