摘要
目的检测1个面部疱疹反复发作家系基因突变情况。方法抽取疱疹反复发作患者及其家系成员外周血进行基因组DNA提取,捕获外显子组,采用Hiseq 2500平台进行测序。再将测序结果与NCBI公布的人类基因组信息(版本为HG38)进行比较,用生物信息学工具总结分析发生突变的基因。结果筛选得到若干发生突变的基因。初步推测泛素特异性肽样酶1(ubiquitin-specific peptidase-like1,USPL1)基因的错义突变很可能影响到干扰素抗病毒信号通路中关键因子STAT1(signal transducer and activator of transcription1)的SUMO(small ubiquitin-like modifier)化,抑制了STAT1的功能,最终引起HSV-1(herpes simplex virus 1)的反复感染。结论先证者及其母亲和女儿均为USPL1基因杂合突变型,而其他家庭成员则为野生型。推测该基因可能是抑制复发性单纯疱疹病毒感染的重要基因之一。本研究为单纯疱疹病毒反复感染机制研究提供候选基因和参考思路。
This study was performed to detect the gene mutation of a Chinese pedigree with recurrent Herpes.DNA was extracted from the peripheral blood of the herpes recurrent family. Exome sequencing was carried out byHiseq 2500, and the information was analyzed by using NCBI（HG38） and bioinformatics tools. Data showed thatthere were a number of genes mutated, in which, USPL1 may be one of the target gene contributed to the recurrent ofherpes simplex virus 1（HSV-1）. The mutation of USPL1 was identified in the patients of the family, but not found inother members without HSV-1 recurrence. We speculate that the USPL1 gene may be involved in the recurrence ofherpes by the SUMOylation of STAT1. This study provides new candidate genes and ideas for the study ofmechanism of HSV-1 recurrence.
出处
《免疫学杂志》
CAS
CSCD
北大核心
2018年第3期273-276,共4页
Immunological Journal
基金
国家自然基金青年基金(81402611)
重庆市基础与前沿研究计划(cstc2014jcyj A10086)
