一例眼白化病1型患儿G职143基因的新突变

Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism

目的对1例眼白化病患儿及其父母进行基因检测，了解其基因突变的类型和遗传模式，以对其进行确诊。方法应用PCR扩增患儿及其父母x染色体上GPR143基因的编码区以及侧翼剪接位点，并进行Sanger测序。结果在患儿GPR143基因第6外显子的编码区发现一个C．758T〉A突变（半合子），其母亲携带相同的突变（杂合子），其父亲则未检测到突变。该突变使终止密码子提前出现，属于很可能致病的无义突变。上述突变的遗传方式为X染色体连锁隐性遗传，结合其临床表型，将患儿确诊为眼白化病1型。结论对一例X染色体连锁的1型眼白化病患者进行了基因诊断，发现了一个新的致病突变。

Objective To detect mutation of GPRJ43 gene in a Chinese patient affected with ocular albinism. Methods Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing. Results A previously unreported mutation （c. 758T〉A） was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation, Conclusion A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.