GTF2H2基因变异体与脊髓性肌萎缩症的相关性  

Correlation of GTF2H2 variants with spinal muscular atrophy

作　　者：方萍[1] 钟泽艳[1] 李亮[1] 

机构地区：[1]南方医科大学基础医学院医学遗传学教研室,广州510515

出　　处：《广东医学》2016年第10期1467-1470,共4页Guangdong Medical Journal

基　　金：国家自然科学基金资助项目(编号:81101328);广东省自然科学基金博士启动项目(编号:S2012040007745);广州市科技计划项目(编号:2013J2200050);南方医科大学创新驱动推进项目(编号:CX2015N011)

摘　　要：目的基于MLPA的检测结果探讨GTF2H2基因的两个变异体与脊髓性肌萎缩症(SMA)的关系。方法利用MLPA技术对317例连续样本进行SMA的决定基因SMN1、修饰基因NAIP与SMN2以及位置相邻基因RAD17、SERF1B及GTF2H2拷贝数检测。根据有无基因转换,对纳入的数据利用相关与回归分析的统计方法进行探讨分析。结果 Spearman's相关性分析显示,纳入分析的223例连续样本的T-GTF2H2与NAIP基因的相关系数为0.694;线性回归显示,GTF2H2基因对NAIP基因的决定系数(R^2)为0.554,调整R^2为0.549,T-GTF2H2变异体的标准回归系数(β)为0.768,而C-GTF2H2变异体的β为-0.052。结论 T-GTF2H2变异体与NAIP基因呈正相关,进而说明T-GTF2H2变异体在SMA致病的分子机制过程中有一定的作用。Objective To investigate the relationship between the two GTF2H2 variants and spinal muscular atrophy （SMA） based on the MLPA assay. Methods MLPA assay was used to detect the copy numbers of the SMA related gene loci, including SMA - determining gene SMN1, SMA - modifying genes NAIP and SMN2, as well as neighboring genes RAD17, SERF1B and GTF2H2, Relationship between the two GTF2H2 variants and SMA was analyzed according to the status of gene conversion, Correlation and regression analyses of target data were conducted. Results 223 consecutive samples were enrolled for data analysis. The results of Spearman＇s correlation analysis showed that the coefficient of correlation between T - GTF2H2 and NAIP gene was 0. 694. Linear regression analysis showed that the determination coefficient （ R2 ） of GTF2H2 gene was 0. 554 and the adjusted coefficient of determination was 0. 549. The standardized regression coefficient （13） of T- GTF2H2 variant and C - GTF2H2 variant was 0. 768 and -0. 052, respectively. Conclusion The T- GTF2H2 variant is positively correlated with the NAIP gene, thus, the T- GTF2H2 variant may contribute to the mo- lecular mechanism of SMA pathogenesis.

关 键 词：脊髓性肌萎缩症 MLPA技术 GTF21-12基因 相关与回归 

分 类 号：R746.4[医药卫生—神经病学与精神病学]