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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。
Objective To screen the GPR143 (G protein-coupled 143 receptor) gene in ocular albinism type 1 (OA1) patients of Han nationality in China and investigate the distribution of the gene mutation and mutation sites in Chinese patients with albinism. Design experiment research. Twelve patients with clinical diagnosis of albinism type I and 120 normal subjects. Methods The genomic DNA was extracted from the peripheral blood and the Sanger sequencing method was used to screen the GPR143 gene coding region and splice site mutations. For newly discovered mutations, the same site was screened in 120 normal individuals to rule out genetic polymorphisms. Analysis of main indicator gene sequence variation. Results A total of 10 mutations were detected in all 12 patients. Seven of them were novel mutations that were not reported in the literature, including missense mutations c.695C> T, c.688A> G, nonsense mutations c.485G> A, C.250 + 1G> A at the cleavage site, frame shift mutations c.415delG, c.560dupG and c.208_218del11. Conclusion The results of this study enriched the GPR143 gene mutation profile and provided important information for gene diagnosis and genetic counseling in patients with albinism in China.