TGFBI基因相关的Thiel-Behnke角膜营养不良家系的建立者效应分析  

Founder effect of two families with TGFB1 related Thiel-Behnke corneal dystrophy

作　　者：秦雪娇[1] 郭永园[1] 闫实[1] 李龙涛 刘洪臣 赵保光 

机构地区：[1]山东大学齐鲁医院眼科,济南250012 [2]郓城诚信医院

出　　处：《中华医学遗传学杂志》2010年第5期489-492,共4页Chinese Journal of Medical Genetics

基　　金：教育部留学回国人员科研启动基金（2005）;山东省优秀中青年科学家科研奖励基金（2007BS03056）

摘　　要：目的 对2个Thiel-Behnke角膜营养不良的家系进行基因诊断和建立者效应分析.方法 提取家系A中15名成员（13例患者,2名健康成员）、家系B中14例成员（6例患者,8名健康成员）以及20名健康自愿者的基因组DNA,通过DNA测序检测转化生长因子β诱导基因（transforming growth factor beta induced,TGFBI/BIGH3）的突变,并对2个家系成员进行单倍型分析.结果 所有患者TGFBI基因的第12外显子发生R555Q突变,2个家系成员具有部分相同的单倍型.结论 基因检测有助于Thiel-Behnke角膜营养不良的确诊.2个患病家系可能来自于同一祖先.Objective To investigate the transforming growth factor beta induced （TGFBI; BIGH3） gene mutation and founder effect of two large Chinese families clinically diagnosed as Thiel-Behnke corneal dystrophy. Methods Fifteen members including 13 affected and 2 healthy in family A, 14 members including 6 affected and 8 healthy in family B, as well as 20 other unrelated healthy individuals were tested for TGFBI gene mutation. Haplotype analysis and clinical examination were also carried out in the two families. Results In exon 12 of the TGFBI gene, 1664G to A change was detected in all the patients,which leads to an amino acid replacement of arginine with glutamine （p. Arg555Gln）. Members of the two families share some similar haplotypes. Conclusion Genetic analysis is helpful in the diagnosis of corneal dystrophy. The two families may come from a same ancestor.

关 键 词：Thidl—Behnke角膜营养不良 TGFBI/BIGH3基因 建立者效应 

分 类 号：R686[医药卫生—骨科学]