肱骨短小症致病相关基因及其变异的筛选与验证  

Screening and verification of pathogenic genes and related mutations in patients with humeral shortness

作　　者：邓阳[1] 李宝华[1] 侯海峰[1] 焦凤萍[1] 龚弘强[2] 李群伟[1] DENG Yang LI Bao-hua HOU Hai-feng JIAO Feng-ping GONG Hong-qiang LI Qun-wei(Institute of Epidemiology, Taishan Medical University, Tai＇an 271016, China)

机构地区：[1]泰山医学院流行病学研究所,山东泰安271016 [2]西藏自治区疾病预防控制中心地方病防治研究所

出　　处：《中国地方病防治》2016年第9期961-965,共5页Chinese Journal of Control of Endemic Diseases

基　　金：国家自然科学基金课题(81060228;81273155);山东省自然科学基金课题(ZR2012HL47)

摘　　要：目的寻找肱骨短小症的特异致病基因及其变异。方法利用全基因组重测序技术,采用Illumina Hi Seq X ten测序系统检测3例肱骨短小症患者和3例正常对照者全基因组,测序数据经过1000 Genomes Project和db SNP数据库过滤,将测序所得的特异性单核苷酸多态性位点(SNP)在全部患者和对照者中验证,并通过GO和KEGG Pathway分析,筛选致病相关的重要候选基因及变异。结果肱骨短小症患者没有特异致病基因,但具有31个特异性SNP,其中PLCB4rs6077510和PLAU rs2227564变异与肱骨短小症发病密切相关。结论肱骨短小症不是遗传病。但其发病与PLCB4和PLAU基因多态性有关,可能是本病发病的重要机制。Objective To explore the pathogenic genes and related mutations of humeral shortness.Methods The whole genome of three patients with humeral shortness and three healthy controls were detected by Illumina Hi Seq X ten system,and sequencing data were filtered in the 1000 Genomes Project and db SNP database,and specific single nucleotide polymorphisms were verified in all patients and controls.Key pathogenic genes and related mutations were screened through GO and KEGG Pathway analysis.Results There were no specific pathogenic genes in patient with humeral shortness,but we identified 31 specific SNPs which were related with humeral shortness,especially PLCB4 rs6077510 and PLAU rs2227564.Conclusion Humeral shortness is not inherited disease,but its pathogenic mechanism is related with genetic polymorphism of PLCB4 and PLAU,and that may be an important mechanism of humeral shortness.

关 键 词：全基因组重测序 肱骨短小症 单核苷酸多态性 致病基因 

分 类 号：R681.7[医药卫生—骨科学]