ARIX基因多态性与一家族性共同性外斜视家系发病的相关性研究  

Study of the correlation between ARIX gene polymorphism and concomitant exotropia in a family

作　　者：王丽丽 谭薇[1] 王涛[1] 宋钊曦[1] 邓雯钰 Wang Lili;Tan Wei;Wang Tao;Song Zhaoxi;Deng Wenyu(First People＇s Hospital of Zunyi City,Guizhou 563000,China)

机构地区：[1]贵州省遵义市第一人民医院眼科,563000

出　　处：《临床眼科杂志》2018年第5期451-454,共4页Journal of Clinical Ophthalmology

基　　金：遵义市科学技术局(遵市科合社字(2014)12号)

摘　　要：目的研究家族性共同性外斜视患者ARIX基因多态性及意义。方法将家系中7例共同性外斜视患者列为家系发病组,家系中无斜视者16例为家系未发病组,选择20例不是家系共同性外斜视患者为普通发病组,选择20例正常人作为对照组,通过抽取所有人外周血进行目的基因的获得及纯化、重组质粒的构建及测序结果。与基因库中人ARIX基因序列进行同源性比较。结果有2个核苷酸突变出现在斜视家系组里ARIX基因外显子1中,其中3例为C169A突变,1例G337A突变,在家系未发病组1例G382T突变,2例非家系斜视组分别在C169A、A467G突变,20例健康人出现1例G382T突变,家系发病组总的核苷酸突变和C169A突变均多于正常人(P=0. 009,P=0. 012)。在家族内阳性病患及阴性家属之间,总的核苷酸突变和C169A突变的差异有统计学意义(P=0. 017,P=0. 020),家系组与非家系斜视组总的核苷酸突变差异有统计学意义(P=0. 048,P <0. 05)。结论在ARIX基因中表达有多态性,C169A核苷酸突变作为家族性共同性外斜视的遗传风险因子具有很大可能性。Objective The current study aimed to investigate the correlation between familial concomitant exotropia and the ARIX gene polymorphism. Methods One exons of the ARIX gene were sequenced by genomic DNA amplification with polymerase chain reaction （PCR） in 27 patients with exotropia （seven in one family group, and 20 were commom exotropia） and 36 control individuals（20 with normal individuals and 16 were in the same family group but no exotropia）. PCR products cloned into plasmids were sequenced.Results two types polymorphisms were investigated in four patients with concomitant extropia in family. including three cases of nucleotide shift of C169A, one cases of nucleotide changes of G337A.One type polymorphism was found in the same family group but no exotropia with nucleotide change of G382T, Two types of polymorphisms were investigated in commom exotropia group with C169A and A467G, and one nucleotide change of C254T was found in control normal group.The total amount of nucleotide polymorphisms were higher than normal individuals ,as well as nucleotide change of C169A （ P =0.009, P =0.012 ）. There was statistical differences between the amount of total nucleotide polymorphisms and the nucleotide change of C169A in patients with exotropia and normal individuals in one family group （ P =0.017, P =0.020）. There was a statistical difference between in the total nucleotide mutation between family group and non family strabismus group （ P =0.048, P 〈 0.05）. Conclusions ARIX gene polymorphisms, especially the mucleotide change of C169A, may be a genetic risk factor 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]