青少年特发性脊柱侧凸基因表达谱的研究

目的从疾病基因表达谱的水平研究青少年特发性脊柱侧凸（adolescent idiopathic scoliosis，AIS）的发病机理。方法利用4张Affymetrix公司的U133 Plus2．0基因表达谱芯片检测5个RNA样本的基因表达谱的差异，其中两个正常儿童RNA样本同时与一张芯片进行杂交，AIS轻度、中度与重度组各一个RNA样本分别与一张芯片杂交，用生物信息学方法筛查有表达差异的基因。结果总共筛选出表达异常及与病情程度变化趋势相关的基因42个，涉及17条染色体。结论外周血基因普表达谱的研究表明青少年特发性脊柱侧凸显示有多基因遗传性，是探讨病因和病变进展的一个方法。

A Preliminary Study on Gene Expression Profile Analysis of the Peripheral Blood Mononuclear Cells from Adolescent Idiopathic Scoliosis

Objective To detect difference in gene expression profile in different AIS. Methods Four pieces of Gene chip( U133 Plus 2.0, Affymetrix Corp.), each for normal (Cobb's angle<10), middle (Cobb's angle in 10-20), moderat (Cobb's angle 21-30) and severe AIS ( Cobb's angle>30), were used to test their gene expression of peripheral blood leucocyte. The difference of gene expression in each cases was analysed by bioinformatics screening method. Results Gene expression in each cases was compared and fourty two genes, which located in 17 chromosomes, were found to be associate with severity of AIS. Conclusions Gene expression in peripheral blood mononuclear cells show AIS maybe a polygenetic disease. Gene expression assayed by gene chip is a new way to study pathogenesis and pathologic change.