中文摘要：

AIMTo 在招募的中国 family.METHODSThe 研究识别为先天的奔流的存在负责的引起疾病的变化一个四产生的中国家谱由正染色体的主导的先天的奔流(ADCC ) 影响了。家庭历史和奔流抽取的历史被记录。血样品为 DNA 抽取从个人被收集。先天的联系奔流的基因的直接定序被执行。单个海滨的 conformational 多型性和生物信息的分析被进行进一步学习定序的 mutation.RESULTSDirect 揭示了一篇小说拼接 c.30-2 A 的地点变化 > 在 CRYBA3/A1 基因的 G。变化在所有以内共同分离在家庭影响了个人并且没在未受影响的成员或 100 无关的正常控制被发现。这些结果被单个海滨的 conformational 多型性和生物信息的分析进一步用人的拼接查找者和 MaxEnt 联机软件和 Annovar 计算机 software.CONCLUSIONc.30-2 A 证实 > CRYBA3/A1 基因的 G 变化是一个新奇变化并且拓宽 ADCC 的基因光谱。

英文摘要：

AIM： To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family. METHODS： The study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract （ADCC）. Family history and the history of cataract extraction were recorded. Blood samples were collected from individuals for DNA extraction. Direct sequencing of congenital cataract-associated genes was performed. Single-strand conformational polymorphism and bioinformatic analysis were conducted to further study the mutation. RESULTS： Direct sequencing revealed a novel splice site mutation of c.30-2 A〉G in the CRYBA3/A1 gene. The mutation co-segregated within all affected individuals in the family and was not found in unaffected members or 100 unrelated normal controls. These results were further confirmed by single-strand conformational polymorphism and bioinformatic analysis using the Human Splicing Finder and MaxEnt online software and Annovar computer software. CONCLUSION： c,30-2 A〉G mutation of CRYBA3/A1 gene is a novel mutation and broadens the genetic spectrum of ADCC, KEYWORDS： splice site mutation; congenital cataract; CRYBA3/A1 gene