CAJ | 학술논문

目的：对收集的一例眼白化病1型家系的致病基因GPR143进行突变检测。方法抽取先证者两兄弟及其母亲的5ml外周血，酚-氯仿法抽提基因组DNA，通过聚合酶链反应（polymerase chain reaction，PCR）扩增眼白化病1型致病基因GPR143外显子及其相邻的内含子，并进行直接测序。结果 PCR结果显示两眼白化病1型的兄弟第五外显子均无产物，而其他8个外显子均有产物，相同反应条件下其母亲及正常对照组所有外显子都可扩增出产物，证明该眼白化病患者的致病基因GPR143的第五外显子缺如。结论本研究在眼白化病1型的患者的致病基因中发现了整个外显子的缺失突变，扩展了OA1致病基因的突变频谱。
목적：대수집적일례안백화병1형가계적치병기인GPR143진행돌변검측。방법추취선증자량형제급기모친적5ml외주혈，분-록방법추제기인조DNA，통과취합매련반응（polymerase chain reaction，PCR）확증안백화병1형치병기인GPR143외현자급기상린적내함자，병진행직접측서。결과 PCR결과현시량안백화병1형적형제제오외현자균무산물，이기타8개외현자균유산물，상동반응조건하기모친급정상대조조소유외현자도가확증출산물，증명해안백화병환자적치병기인GPR143적제오외현자결여。결론본연구재안백화병1형적환자적치병기인중발현료정개외현자적결실돌변，확전료OA1치병기인적돌변빈보。
Objective There are few genetic studies of Asian patients with X-linked ocular albinism type 1 (OA1). In the present study, the mutation analysis of G protein-coupled receptor 143 gene(GPR143)was assessed in Chinese patients with OA1. Methods 5ml peripheral blood samples were separately taken from the proband and his mother. Genomic DNA was prepared from venous leukocytes. The coding regions of the GPR143 gene were amplified by polymerase chain reaction and subsequently analyzed by direct sequencing. The variations detected were further e-valuated in available family members as well as controls. Results The PCR products of all 9 exons were detected in the proband and the normal controls. There were no PCR products of exon 5 in the two brothers, while the other eight ex-ons PCR products were normal. This result indicates a large intragenic deletion encompassing exon 5 in GPR143 gene in the two OA1 brothers. Conclusions This study found a large intragenic deletion encompassing exon 5 in GPR143 gene and expands the mutation spectrum of GPR143.