RAB31基因的单核苷酸多态与高度近视的相关性

Relationship of SNPs in the RAB31 gene and high myopia

目的 分析高度近视及正常人的RAB3 1基因的单核苷酸多态 (SNP) ,探讨其与高度近视发病的关系。方法 收集 178例高度近视先证者及 71例正常人的外周血DNA ,对RAB3 1基因的外显子及临近内含子序列进行PCR扩增 ,异源双链 -单链构象多态性 (HA SSCP)及测序分析。结果 共发现 7个SNP ,位于内含子 ,同时出现在高度近视组和正常对照组中。对照组出现SNP10 6694C→T频率高于高度近视组 ,有显著性差异。结论 RAB3 1基因的SNP不会导致高度近视发病 ,SNP10 6694C→T可能是一个保护因子 ,其机制有待进一步研究。

ObjectiveTo investigate the relationship of single nucleotide polymorphisms( SNPs) in the RAB31 gene and high myopia.MethodsGenomic DNA was collected from 178 individuals with high myopia and 71 control subjects.The exons and the flanking intron regions of RAB31 gene were analyzed by polymerase chain reaction,heteroduplex-single strand conformation polymorphism (HA-SSCP) and sequencing.ResultsThere were 7 SNPs of RAB31 gene in high myopia individuals and control subjects.Among them,only 106694C→T showed a significant difference between the individuals with and without high myopia.The frequence in control group was higher than that in high myopia group. All SNPs were located in the introns close to exons.ConclusionNo evidence is found that the SNPs of RAB31 gene is responsible for the high myopia.Further studies are needed to confirm whether SNP 106694C→T can protect humans from the susceptibility to high myopia.