一个共同性外斜视家系基因突变研究

Study on genetic mutation in a family of concomitant exotropia

目的研究一个共同性外斜视家系中患者的基因突变位点及其发病机制。方法对一个共同性外斜视一家系检查,抽取4例患者外周静脉血,及1名正常家系成员,3名非家系健康人外周静脉血作阴性对照,以外周血基因组为模板,通过PCR扩增ARIX基因外显子、TUBB2b基因外显子、TUBB3基因的外显子,并将PCR产物纯化后测序。测序结果与GenBank公布的基因正常序列进行比对。结果该家系成员在ARIX基因无任何外显子突变,而1例患者在TUBB2b基因外显子存在位点rs2259136同义突变,3例患者在TUBB3基因中3′UTR区域rs1135425位点出现突变。结论共同性外斜视遗传受多因素影响,TUBB3基因rs1135425位点突变可能是引起该家系外斜视的一种原因。

Objective To study the genetic mutation locus and pathogensis in a family of concomitant exotropia.Methods The examination was performed on a family of concomitant exotropia,peripheral blood was collected from 4 patients,1 normal family member and 3 non-family normal subjects as the negative control.With the genomic DNA obtained from peripheral blood as the template,the exon in ARIX gene and exon in TUBB2b and TUBB3 genes were amplified by PCR,after purifying the PCR products,the sequencing was performed.Then the sequencing results were compared with the gene normal series published by GenBank.Results There was no the exon mutation of ARIX gene in this family;one patient had synonymous mutation at the TUBB2b gene exon site(rs2259136).The mutagenesis occurred in 3 patients at the 3′UTR region rs1135425 in the TUBB3 gene.Conclusion Concomitant exotropia is influenced by multiple factors,and the mutation of TUBB3 gene rs1135425 locus might be one of the factors causing concomitant exotropia of this family.