共同性外斜视ARIX基因多态性研究  

Study on the ARIX gene polymorphisms in patients with concomitant exotropia

作　　者：刘桂香[1] 赵会元[2] 孔庆兰[1] 胡聪[1] 

机构地区：[1]青岛大学医学院附属医院眼科,266003 [2]青岛大学医学院附属医院检验科,266003

出　　处：《眼科研究》2007年第1期57-60,共4页Chinese Ophthalmic Research

基　　金：山东省教育厅基金资助(J04E16)

摘　　要：目的探讨共同性外斜视患者ARIX基因多态性及意义。方法19例患者和20例正常对照提取DNA进行PCR扩增,扩增产物分离、纯化、克隆并测序鉴定,测序结果与GenBank中人ARIX基因序列进行同源性比较。结果8例患者ARIX基因外显子1发生3种类型的核苷酸突变,其中6例为G153A突变,而20例正常人中仅2例出现G153A突变,总的核苷酸突变和G153A突变均显著多于正常人(P=0.0310,P=0.0436)。在具有阳性和阴性家族史患者之间,总的核苷酸突变和G153A突变的差异均无显著统计学意义(P=0.0739,P=0.1287)。结论ARIX基因多态性,尤其是G153A核苷酸突变可能是共同性外斜视的遗传风险因子。Objective More and more documents has determined that gene is involved in pathogenesis of strabismus, and ARIX gene polymorphism is also concerned due to its role in congenial superior oblique muscle paralysis. Aim of present paper was to investigate the ARIX gene polymorphism in patients with concomitant exotropia and its association with the family history of these patients and clinical characteristics. Methods The genomic DNA was extracted from peripheral blood and amplified with PCR in 19 patients with concomitant exotropia and 20 normal individuals. The PCR products were purified and cloned into plasmid pMD18-T for DNA sequencing. DNA sequences were aligned with the human ARIX gene sequences registered in GenBank, Results Three kinds of nucleotide changes in the exon 1 of the ARIX gene were found in 8 patients with concomitant exotropia, and a nucleotide shift of GI53A in the 5＇-untranslated region （UTR） was seen in 6 patients. However, the nucleotide change of G153A was only found in 1 of 20 normal individuals. The total numbers of nucleotide changes and G153A in the exon 1 of the ARIX gene in concomitant exotropie patients were significantly more than those of normal individuals （ P = 0.031 0, P = 0.043 6 ）. The nucleotide changes both total nucleotide changes and G153A change were not significantly different between the patients with positive family history of strabismus and ones with negatives （ P = 0. 073 9, P = 0. 128 7 ）. Conclusion The ARIX gene polymorphisms,especially the nucleotide change of G153A may be one of genetic risk factors for concomitant exotropia.

关 键 词：共同性外斜视 ARIX基因 多态性 

分 类 号：R777.41[医药卫生—眼科]