中国汉族眼白化病患者GPR143基因突变分析

发布时间：2018-02-20 02:54

本文关键词： 眼白化病 GPRl基因新突变　出处：《眼科》2017年04期 　论文类型：期刊论文

【摘要】：目的筛查中国汉族眼白化病I型(ocular albinism type1,OA1)患者的GPR143(G蛋白偶联143受体)基因,了解中国人眼白化病患者基因突变方式和突变位点的分布特征。设计实验研究。研究对象12例临床诊断为眼白化病I型的患者及120名正常人。方法外周血提取基因组DNA,利用DNA扩增产物直接Sanger测序方法,筛查GPR143基因编码区和剪接位点突变。对于新发现的变异,在120例正常人中筛查同一位点以排除基因多态性。主要指标基因序列变异分析。结果 12例患者均检测出GPR143基因突变,共检出10种突变方式,其中7种为未见文献报道的新突变,包括错义突变c.695CT,c.688AG,无义突变c.485GA,剪切位点突变c.250+1GA,移码突变c.415del G、c.560dup G和c.208_218del11。结论本研究结果丰富了GPR143基因突变谱,为中国眼白化病患者的基因诊断和遗传咨询提供了重要信息。
[Abstract]:Objective to screen the China Han ocular albinism type I (ocular albinism Type1, OA1) with GPR143 (G protein coupled receptor 143) gene, gene Chinese human understanding Albino Mutation and distribution of mutations. The experimental research design. Research object for the clinical diagnosis of 12 cases of ocular albinism type I patients and 120 healthy. Methods peripheral blood genomic DNA extraction, amplification products direct Sanger sequencing method by DNA screening of GPR143 gene encoding region and splice site mutations. The variation in the newly discovered, in 120 cases of normal people in the same locus screening to exclude gene polymorphism. Analysis of the main indicators of gene mutation. Results 12 cases were detected GPR143 gene mutations were detected in 10 kinds of mutations, including 7 novel mutations were reported in literature, including c.695CT c.688AG, missense mutation, nonsense mutation c.485GA, splice site mutation c.250+1GA, The results of frameshift mutation c.415del G, c.560dup G and c.208_218del11. concluded that the results of this study enriched GPR143 gene mutation spectrum, and provided important information for gene diagnosis and genetic counseling of Chinese patients with ocular albinism.

【作者单位】：首都医科大学附属北京同仁医院皮肤科;首都医科大学附属北京儿童医院眼科;
【基金】：国家自然科学基金(81472871) 北京市卫生系统高层次卫生技术人才培养项目资助(2005-3-011)
【分类号】：R596

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