CAJ | 학술논문

目的：对一颗粒状角膜营养不良( GCD )家系进行BIGH3基因突变筛查,以确定其致病基因。方法收集一常染色体显性遗传的GCD家系,提取该家系患者及正常者的DNA,通过聚合酶链式反应( PCR)扩增BIGH3基因的目的片段,纯化后直接测序,用DNAStar软件分析测序结果,检测其BIGH3基因突变的类型。结果该家系患者均检测出第4外显子的R124H突变(CGC>CAC),而家系中的正常者及50例正常对照者的BIGH3基因中均未发现该突变。家系成员都检测出第11、12外显子的同义单核苷酸多态性( SNP)。通过基因检测,确定该家系角膜营养不良的分型,即为GCDⅡ型,又称Avellino角膜营养不良( ACD)。结论 BIGH3基因突变导致了该家系角膜营养不良患者的角膜病变,突变类型为R124H杂合突变。
목적：대일과립상각막영양불량( GCD )가계진행BIGH3기인돌변사사,이학정기치병기인。방법수집일상염색체현성유전적GCD가계,제취해가계환자급정상자적DNA,통과취합매련식반응( PCR)확증BIGH3기인적목적편단,순화후직접측서,용DNAStar연건분석측서결과,검측기BIGH3기인돌변적류형。결과해가계환자균검측출제4외현자적R124H돌변(CGC>CAC),이가계중적정상자급50례정상대조자적BIGH3기인중균미발현해돌변。가계성원도검측출제11、12외현자적동의단핵감산다태성( SNP)。통과기인검측,학정해가계각막영양불량적분형,즉위GCDⅡ형,우칭Avellino각막영양불량( ACD)。결론 BIGH3기인돌변도치료해가계각막영양불량환자적각막병변,돌변류형위R124H잡합돌변。
Objective To identify the mutation of BIGH3 gene in a Chinese family with granular corneal dystro-phies( GCD) . Methods Genomic DNA was extracted from the peripheral blood of the GCD patients,the relatives of the GCD family and the normal controls. The 3 exons(4,11,12)of the BIGH3 gene were amplified by PCR and sequenced bidirectionally. The sequencing results were analyzed by DNAStar software. Results Directly sequen-cing of 4 affected members revealed a G to A transition at codon 124(CGC>CAC),producing R124H mutation of BIGH3 gene. Two synonymous single nucleotide polymorphism( SNPs) of BIGH3 gene were found in the family. The classification based on genetic information of this family was GCD type II. Conclusion BIGH3 gene mutation is the disease-causing gene of this GCD family, mutation type is R124H heterozygous mutations.