中国人散发性肌萎缩侧索硬化发病风险与碳水化合物激酶域包含基因单核苷酸多态性关联的研究  

Polymorphism risk factor study on FGGY gene in Chinese patients with sporadic amyotrophic lateral sclerosis

作　　者：李晓光[1] 林一聪[1,2] 张江鹄[1] 谢曼青[1] 刘明生[1] 崔丽英[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院神经内科,100730 [2]首都医科大学宣武医院神经内科

出　　处：《北京医学》2013年第5期322-326,I0001,共6页Beijing Medical Journal

摘　　要：目的探讨中国人散发性肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)致病风险与碳水化合物激酶域包含(carbohydrate kinase domain containing,FGGY,又称FLJ10986)基因中rs6700125的关联,及其是否与其他人群相同。方法提取外周血基因组样本DNA,采用两种方法进行单核苷酸多态性(SNP)分型,第一部分样本以不对称PCR扩增包含目标SNP在内的片段,采用高分辨熔解法完成非标记探针的基因分型,第二部分样本采用质谱分型。结果完成了中国汉族人群组成的143例ALS患者与153名正常对照之间rs6700125位点的基因分型。rs6700125基因型Hardy-Weinberg平衡采用Pearson检验、lIr检验、精确检验,结果显示对照组及病例组均符合Hardy-Weinberg平衡,说明本研究的样本为连锁平衡群体,具有群体代表性。rs6700125位点在中国人群为来源的143例ALS患者与153名正常对照之间,等位基因(T/C)频率(OR=1.117,95%CI:0.84～1.62,χ2=0.94,P%=0.331)及基因型频率(OR=1.136,95%CI:0.64～2.013,χ2=0.19,P%=0.662)的差异无统计学意义。结论本研究未发现FGGY基因中的rs6700125位点与中国人散发性ALS的致病风险相关。这可能和ALS本身复杂的遗传异质性相关,也不除外人种差异,有必要根据全基因关联分析的初步结果在中国汉族患者中筛查与发病风险有关的特异易感位点。Objective To study the polymorphism of rs6700125 in carbohydrate kinase domain containing（FGGY or FLJ10986）gene in sporadic amyotrophic lateral sclerosis（SALS）patients of Chinese Han origin.Methods The genomic DNA from the leukocytes of whole blood samples in 143 SALS patients and 153 normal control were extracted.Two methods were applied,one for processing the asymmetric PCR in the presence of an unlabeled probe that containing the rs6700125 locus,and light scanner were used for genotyping,and some were confirmed with sequencing.The second part of the genotyping was performed using a Sequenom chip-based MALDI-TOF mass spectrometry platform.Results We genotyped the rs6700125,which was consistently strongly associated with the susceptibility to SALS in different populations of European and American ancestry.However,this rs6700125 was not strongly associated with ALS in Chinese patients（OR=1.117,95%CI：0.84～1.62,χ2=0.94）.Conclusion The rs6700125 in FGGY gene is not associated with ALS susceptibility in Chinese people.

关 键 词：肌萎缩侧索硬化 单核苷酸多态性 FGGY基因 高分辨率熔解 质谱分型 关联分析 

分 类 号：R744[医药卫生—神经病学与精神病学]