作　　者： (魏爱华）; (张樱子）; (白大勇）; (刘腾）; (杨秀敏）;

机构地区： 首都医科大学附属北京同仁医院皮肤科,100730

出　　处： 《眼科》 2017年第4期224-229,共6页

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.695C>T,c.688A>G,无义突变c.485G>A,剪切位点突变c.250+1G>A,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 explore the genotypes and mutational spectrum of OA1 （ocular albinism typel） in 12 Chinese Han pa- tients by screening the GPR143 gene （G-protein coupled receptor 143）. Design Gene mutation screening. Participants 12 clinically di- agnosed OA1 patients and 120 unaffected subjects. Methods Genomic DNA was extracted from the blood samples. The amplified DNA segments were screened for mutations of GPR143 by direct Sanger sequencing. To exclude the previously unidentified mutations from polymorphisms, samples from 120 unaffected controls were sequenced for the same regions of variations. Main Outcome Measures Gene variation analysis. Results Ten GPR143 gene mutations were detected in twelve patients and seven of these were identified as novel mutations, including e.695C〉T, e.688A〉G, c.485G〉A, c.250＋1G〉A, c.415delG, c.560dupG and e.208_218dell 1. Conclusion The findings of this study expand the gene mutation spectrum of GPR143, which is useful to the genetic testing and genetic counseling of Chinese OA patients.

关 键 词： 眼白化病 基因 新突变