POC5基因罕见突变位点在中国汉族人群特发性脊柱侧凸患者中的分布研究  

Distribution of POC5 rare mutation sites in idiopathic scoliosis patients of Chinese Han population

作　　者：徐启明[1] 吴南[1,2,3] 陈易新 崔丽嘉 牛宇辰 李孝鑫 沈建雄 仉建国[1,2,3] 吴志宏 邱贵兴[1,2,3] XU Qiming;WU Nan;CHEN Yixin;CUI Lijia;NIU Yuchen;LI Xiaoxin;SHEN Jianxiong;ZHANG Jianguo;WU Zhihong;QIU Guixing(Department of Orthopedic Surgery, Peking Union Medical College Hospital, CAMS＆PUMC, Beijing 100730;Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730;Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing 100730;Fuwai Hospital, CAMS, Beijing 100037;Department of Endocrinology, Peking Union Medical College Hospital, CAMS＆PUMC, Beijing 100730;Department of Central Laboratory, Peking Union Medical College Hospital, CAMS＆PUMC, Beijing 100730, China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院骨科,北京100730 [2]北京市骨骼畸形遗传学研究重点实验室,北京100730 [3]中国医学科学院骨科研究中心,北京100730 [4]中国医学科学院阜外医院,北京100037 [5]中国医学科学院北京协和医学院北京协和医院内分泌科,北京100730 [6]中国医学科学院北京协和医学院北京协和医院中心实验室,北京100730

出　　处：《中华骨与关节外科杂志》2018年第3期186-191,共6页Chinese Journal of Bone and Joint Surgery

基　　金：国家自然科学基金(81472046;81472045;81772299;81772301)

摘　　要：背景:特发性脊柱侧凸(idiopathic scoliosis,IS)是一种脊柱三维畸形,其特点是脊柱侧方弯曲的度数>10°并伴有椎体的旋转畸形且已除外目前已知的所有致病原因。编码中心粒蛋白体-5(proteome of centrioles 5,POC5)的POC5基因是在高加索人群IS患者中发现的第一个致病性基因,而在中国汉族人群IS患者中尚无关于该基因的罕见变异报道。目的:检测中国汉族人群IS患者中POC5基因的突变情况。方法:选取2010年10月至2017年10月在我院就诊的121例中国汉族人群IS患者作为实验组,选取50名健康中国汉族人作为对照组,使用Sanger测序法,对他们血液样本中的DNA进行POC5基因测序。结果:在2例中国汉族IS患者中发现位于POC5基因第10外显子(NM_001099271)上的错义突变,分别是c.C1139T(p.S380F)及c.A1132T(p.I378L),而在50名健康人群中并未发现有POC5基因突变位点。结论:POC5基因第10外显子可能是中国汉族人群及高加索人群中,IS相关突变位点的热点区域。POC5突变在IS中的分子生物学发病机制,需要进一步的细胞功能及动物模型等研究进行验证。Background： Idiopathic scoliosis（IS） is a kind of three-dimensional deformity of spine, which is characterized by spine curve more than 10 degrees and rotational deformities of the spine, with exclusion of all the known etiology of scoliosis. POC5 gene encoding proteome of centrioles 5 was the first genetic etiology of IS recently discovered in Caucasian population, while rare variants of POC5 have not yet been reported in the Chinese Han IS patients. Objective： To detect mutations of POC5 gene in IS patients of Chinese Han population. Methods： One hundred and twenty-one IS patients of Chinese Han population diagnosed in our hospital were chosen as the experimental group, while 50 healthy people of Chinese Han population were chosen as the control group. Sanger sequencing was used to detect the POC5 gene in the DNA detracted from the blood sample. Results： Two novel missense mutations of c.C1139 T（p.S380 F） and c.A1132 T（p.I378 L） in exon 10 of POC5（NM_001099271） were detected among 121 Chinese Han persons with diagnosis of IS, while no POC5 mutation was found in 50 related healthy control. Conclusions： Exon 10 in POC5 may be a hotspot region for mutations in IS, for both Caucasian and Han Chinese population.

关 键 词：特发性脊柱侧凸 POC5基因 Sanger测序法 中国汉族人群 

分 类 号：R681.5[医药卫生—骨科学]