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内蒙古地区单纯性病理性近视患者Decorin基因突变筛查

Screening for mutation of Decorin gene in simple pathological myopia in Inner Mongolia region
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摘要 目的:研究内蒙古地区单纯性病理性近视患者核心蛋白聚糖(Decorin,DCN)基因与高度近视的关系。方法:收集单纯性病理性近视患者血液100例,视力正常者血液100例作为对照组,提取全血基因组DNA,应用聚合酶链反应(polymerase chain reaction,PCR)方法分别扩增DCN基因第7、第8个外显子及其邻近内含子并进行测序分析。统计学分析研究DCN基因外显子7、8的突变位点与单纯性病理性近视的相关性。结果:单纯性病理性近视患者100例中发现有2例发生突变,均为41775T→C,位于外显子8的邻近内含子区域,其余均未发现任何突变。与正常组对比差异无统计学意义(P>0.05)。结论:内蒙古地区单纯性病理性近视患者的DCN基因外显子7、8突变与本组高度近视无关。 AIM:To investigate the relation of Decorin(DCN) gene and simple pathological myopia in Inner Mongolia region.·METHODS:Genomic DNA was collected from 100 control subjects and 100 patients with simple pathological myopia.The exon7 and exon8 and the flanking intron regions of DCN gene were analyzed by polymerase chain reaction(PCR) and direct sequencing.The relation of Decorin gene exon7 and exon8 with simple pathological myopia was statistically analyzed.·RESULTS:In simple pathological myopia group,2patients' gene mutations were identified.Both was 41775T→C,located at the flanking intron regions of exon8.No variation was found in others including control group.The gene mutation between controls and simple pathological myopia groups were not different(P0.05).·CONCLUSION:DNC gene exon7 and exon8 mutation may not be the disease gene in this group in Inner Mongolia region.
出处 《国际眼科杂志》 CAS 2016年第3期579-581,共3页 International Eye Science
关键词 单纯性病理性近视 核心蛋白聚糖基因 突变 simple pathological myopia Decorin gene mutation
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参考文献7

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