CAJ | 학술논문

拷贝数变异是基因组中广泛存在的一种结构变异,为个体间基因差异的重要来源之一.近年来,随着基因芯片及基因测序技术的成功研发,拷贝数变异的检测技术也日益标准化、自动化,也使得拷贝数变异在自身免疫性疾病等复杂疾病中的作用越来越受到学界的关注和重视.拷贝数变异的检测技术可以分为定点分析技术和基于全基因组水平的分析平台.目前拷贝数变异在自身免疫性疾病中的研究多集中在系统性红斑狼疮和类风湿关节炎,受限于检测技术和检测成本,研究尚处于起步阶段.
고패수변이시기인조중엄범존재적일충결구변이,위개체간기인차이적중요래원지일.근년래,수착기인심편급기인측서기술적성공연발,고패수변이적검측기술야일익표준화、자동화,야사득고패수변이재자신면역성질병등복잡질병중적작용월래월수도학계적관주화중시.고패수변이적검측기술가이분위정점분석기술화기우전기인조수평적분석평태.목전고패수변이재자신면역성질병중적연구다집중재계통성홍반랑창화류풍습관절염,수한우검측기술화검측성본,연구상처우기보계단.
Copy number variation (CNV) is one kind of structural variations,which exists extensively in human genome.In addition,it is the crucial source of inter-individual gene differences.Recently,with the successful development of gene array and gene sequencing,molecular methods for CNV testing are more and more standardizing and automating.Therefore,ongoing attentions have been attached to the effects and mechanisms of CNV in complicated diseases like autoimmune diseases.Molecular methods for CNV testing can be divided into two categories:target screening and the whole genome scanning platforms.Currently,the studies about CNV and autoimmune diseases mainly focused on systemic lupus erythematosus and rheumatoid arthritis.Considering the limitations of measurement methods and testing costs,it is still in the infant.