344例健康人基因组中人内源性逆转录病毒K103、K11、K113和K115基因分布  

Distribution of K103,K11,K113 and K115 genes in human endogenous retrovirus among genome of 344 healthy people

作　　者：裴志超 李宏 孟祥飞 沈鑫 朱函坪[1] 孙一晟[1] 姚苹苹[1] 徐芳[1] PEI Zhi-chao;LI Hong;MENG Xiang-fei;SHEN Xin;ZHU Han-ping;SUN Yi-sheng;YAO Ping-ping;XU fang(Zhejiang Provincial Center for Disease Control and Prevention,Hangzhou,Zhejiang 310051,China;不详)

机构地区：[1]浙江省疾病预防控制中心微生物所,浙江杭州310051 [2]中部战区疾病预防控制中心,北京100042 [3]宿迁市第一人民医院医学检验科,江苏宿迁223800

出　　处：《中华医院感染学杂志》2024年第5期641-645,共5页Chinese Journal of Nosocomiology

基　　金：浙江省医药卫生科技计划基金资助项目(2023RC008)。

摘　　要：目的 明确人内源性逆转录病毒(HERV)-K103、HERV-K11、HERV-K113和HERV-K115基因在我国健康人群基因组中的插入率,并分析其在不同民族、性别、年龄之间的分布。方法 选择2022年1月-2023年4月在宿迁市第一人民医院体检以及新疆某部队官兵及家属344名健康体检人群为研究对象。收集体检人群的外周血淋巴细胞富集液(PBMC)样本,提取基因组DNA,通过聚合酶链式反应(PCR)扩增及核酸电泳检测,判断样本基因组中HERV-K103、HERV-K11、HERV-K113和HERV-K115基因插入状况,分析其在不同民族、性别、年龄的分布是否存在差异。结果 在本研究所收集的344份健康人PBMC样本中,HERV-K103、HERV-K11、HERV-K113和HERV-K115插入率分别为18.31%、82.56%、31.98%和10.17%。HERV-K11在汉族的插入率为96.77%高于维吾尔族(45.83%)(P<0.05);HERV-K115在汉族的插入率为4.84%,低于维吾尔族(23.96%)(P<0.05);HERV-K103和HERV-K113的插入率在汉族和维吾尔族间无统计学差异。HERV-K103、HERVK11、HERV-K113和HERV-K115在不同年龄、性别之间的分布无统计学差异。结论 首次阐明HERV-K103、HERV-K11、HERV-K113和HERV-K115基因在我国汉族和维吾尔族健康人基因组中的频率分布,为进一步研究其与癌症、自身免疫性疾病和病毒感染的相关关系奠定基础。OBJECTIVE To demonstrate the insertion rates of human endogenous retrovirus(HERV)-K103,HERV-K11,HERV-K113 and HERV-K115 genes in genome of the healthy Chinese population and observe the distribution in the population with different ethnic groups,genders and ages.METHODS From Jan 2022 to Apr 2023,a total of 344 soldiers and their family members of a military force of Xinjiang who received physical exami-nation in the First People's Hospital of Suqian were recruited as the research subjects.The peripheral blood mono-nuclear cells(PBMCs)samples were collected to extract the genome DNA,and the insertion rates of HERV-K103,HERV-K11,HERV-K113 and HERV-K115 in the genome of the samples were detected by means of poly-merase chain reaction(PCR)amplification and nucleic acid electrophoresis.The difference in the distribution of the genes among the population with different ethnicities,genders and ages was observed.RESULTS Among the 344 PBMC samples that were collected from the healthy people,the insertion rates of HERV-K103,HERV-K11,HERV-K113 and HERV-K115 were 18.31%,82.56%,31.98%and 10.17%,respectively;the insertion rate of HERV-K11 of the Han ethnic group was 96.77%,higher than 45.83%of the Uygur ethnic group(P<0.05);the insertion rate of HERV-K115 of the Han ethnic group was 4.84%,lower than 23.96%of the Uygur ethnic group(P<0.05).There were no significant differences in the insertion rates of HERV-K103 and HERV-K113 between the Han ethnic group and the Uygur ethnic group.There was no significant difference in the distribution of HERV-K103,HERV-K11,HERV-K113 and HERV-K115 among the population with different ages and genders.CONCLUSION It is for the first time to clarify the distribution of frequency of HERV-K103,HERV-K11,HERV-K113 and HERV-K115 genes in genome of healthy population of Han and Uygur ethnic groups so as to lay foun-dation for further research on its association with cancer,autoimmune diseases and viral infection.

关 键 词：人内源性逆转录病毒 人内源性逆转录病毒-K103 人内源性逆转录病毒-K11 人内源性逆转录病毒-K113 人内源性逆转录病毒-K115 体检人群 维吾尔族 汉族 

分 类 号：R394.5[医药卫生—医学遗传学]