标题：中国汉族人群AIS基因多态性研究进展

      作者：张杨洋，王文军    (南华大学附属第一医院脊柱外科，湖南 衡阳 421001)

      卷次： 2017年28卷21期

      【摘要】 研究已经证实青少年特发性脊柱侧凸(AIS)与遗传因素密切相关，而基因多态性与AIS相关性的研究是近年来医学分子遗传学研究的重点，选择既往研究中与AIS相关的候选基因单核苷酸多态性位点及全基因组关联分析(genome-wide association study，GWAS)公布的密切相关的单核苷酸多态性位点进行基因分型，评估AIS的发生发展与候选基因的联系是基因多态性研究的常规思路。优先选择在遗传背景相似的对象中得以验证的位点更易在中国汉族AIS人群中得以验证，进而为深入的功能学研究及遗传咨询奠定基础。
      【关键词】 青少年特发性脊柱侧凸；基因多态性；基因型
      【中图分类号】 R394 【文献标识码】 A 【文章编号】 1003—6350（2017）21— 3517—0

4Research progress of gene polymorphism in adolescent idiopathic scoliosis of Chinese Han population.
ZHANGYang-yang, WANG Wen-jun. Department of Spinal Surgery, the First Affiliated Hospital of University of South China,Hengyang 421001, Hunan, CHINA【Abstract】 The studies have confirmed that adolescent idiopathic scoliosis (AIS) is closely related to genetic fac-tors. The correlation between gene polymorphisms and AIS are the focus of medical molecular genetics research in re-cent years. Selecting the AIS-related candidate gene single nucleotide polymorphism (SNP) sites in the previous studyand the closely related SNP sites in the genome-wide association study (GWAS), genotyping, and assessing the correla-tion between the susceptibility and progression of AIS and gene polymorphisms are the general idea of the study. Prefer-entially choosing sites that are validated in similar genetic backgrounds are more likely to be validated in the AIS of Chi-nese Han population, and the results can provide the basis for in-depth functional research and genetic counseling.
      【Key words】 Adolescent idiopathic scoliosis (AIS); Gene polymorphism; Genotype基金项目：国家自然科学基金面上项目(编号：31570946)