摘要:目的 以基因突变分析一角膜营养不良家系的致病分子基础。方法 应用PCR产物直接DNA测序及限制性内切酶分析检测家系中7例患者和6例表型正常成员的K3、K12和BIGH3基因突变情况。结果 该家系患者成员在K3与K12基因的编码序列区没有发现突变,而BIGH3基因外显子12存在CGG>TGG(R555W)突变杂合子,家系表现正常成员及正常对照均无BIGH3基因突变;限制性内切酶分析结果显示突变与疾病表现型呈完全共分离。结论 利用基因突变分析确诊我国首例报道的Meesmann角膜营养不良家系属于颗粒状角膜营养不良,且为BIGH3 R555W杂合突变类型。

    关键词: 角膜营养不良,遗传性; 基因; 突变; 序列分析,DNA; 聚合酶链反应; 系谱

    Exon 12 of BIGH3(R555W) Mutation in Granular Corneal Dystrophy in a Chinese Kindred

    Yang Juhua, Tong Yi, Zhu Yihua, Xiao Jiyong, Chen Yikai, Lin Jianyin

    1.Biomedical Engineering Center, Fujian Medical University, Fuzhou 350004 China

    2.Department of Ophthalmology, The Affiliated First Hospital, Fujian Medical University, Fuzhou 350005, China

    3.Department of Ophthalmology, Nanping First Hospital, Nanping 353000, China

    4.Research Center of Molecular Medicine, Fujian Medical University, Fuzhou 350004, China

    ABSTRACT: Objective Molecular genetic analysis of a large Chinese corneal dystrophy kindred. Methods Thirteen individuals including seven affected and six unaffected family members in this granular corneal dystrophy kindred were studied. Genomic DNA was purified from blood peripheral leukocytes. All of the exons of both the Keratin3 and the keratin12 genes, and the exon 4 and exon 12 of BIGH3 gene were amplified using polymerase chain reaction(PCR), followed by direct bidirectional sequencing for mutation detection. ......