CAJ | 학술논문

目的探讨Best卵黄样黄斑营养不良(BVMD)一家系的临床表型特征和相关基因VMD2的突变特点.方法回顾性分析BVMD一家系患者详细的临床资料,包括眼底检查、荧光素眼底血管造影(FFA)及相干光断层扫描(OCT)图像等,并对患眼病变进行分期.同时对该家系5例患者及其家族中2名正常成员进行基因分析.采取外周血2.7 ml,制备外周血白细胞基因组DNA,应用合成的特异性引物,以聚合酶链反应(PCR)分别扩增VMD2基因的第1～11对外显子,将基因产物进行直接测序,分析相应基因序列.结果该家系呈现常染色体显性遗传.5例(10只眼)眼底病变分别属于0、Ⅱ a、Ⅱb、Ⅲ和Ⅳ期,较为少见.各期的眼底改变、FFA和OCT图像特征虽不相同,但具有代表性.基因序列分析可见VMD2基因第301密码子第3个碱基呈杂合子点突变,即T→G,导致天冬氨酸变为谷氨酸(Asp301Glu).结论我国BVMD一家系呈现VMD2基因突变.基因分析结果将为疾病的确诊提供可靠依据.
목적 탐토Best란황양황반영양불량(BVMD)일가계적림상표형특정화상관기인VMD2적돌변특점.방법 회고성분석BVMD일가계환자상세적림상자료,포괄안저검사、형광소안저혈관조영(FFA)급상간광단층소묘(OCT)도상등,병대환안병변진행분기.동시대해가계5례환자급기가족중2명정상성원진행기인분석.채취외주혈2.7 ml,제비외주혈백세포기인조DNA,응용합성적특이성인물,이취합매련반응(PCR)분별확증VMD2기인적제1～11대외현자,장기인산물진행직접측서,분석상응기인서렬.결과 해가계정현상염색체현성유전.5례(10지안)안저병변분별속우0、Ⅱ a、Ⅱb、Ⅲ화Ⅳ기,교위소견.각기적안저개변、FFA화OCT도상특정수불상동,단구유대표성.기인서렬분석가견VMD2기인제301밀마자제3개감기정잡합자점돌변,즉T→G,도치천동안산변위곡안산(Asp301Glu).결론 아국BVMD일가계정현VMD2기인돌변.기인분석결과장위질병적학진제공가고의거.
Objective To describe clinical phenotype in a Chinese family with Best vitelliform macular dystrophy(BVMD)and to identify the mutation of the VMD2 gene in this family.Methods It waft a retrospective case analysis.Five patients(10 eyes)were diagnosed as BVMD by the fundus photography,EOG,fluorescein angioography(FFA)and optical coherence tomography(OCT).Their clinical data were analyzed retrospectively.Molecular genetic analysis was performed on DNA extracted from peripheral leucocytes of all patients and 2 unaffected family members．Exon 1 to 11 of the VMD2 gene were amplified by polymerase chain reaction for direct sequencing.Results The pedigree showed aJl autosomal dominant inhefitance.Ten eyes from 5 patients were classified into Stage 0,lI a,II b,lU and 1V with different clinical manifestations.Direct sequencing of all affected members revealed a T→G transition at codon 301.producing Asp301Glu mutation of VMD2 gene．Conclusions Asp301Glu mutation of the VMD2 gene is found in a Chinese fay with BVMD.The phenotype of BVMD in this family belongs to geographic type. Molecular genetic approach may be useful for the proper diagnosis of BVMD.