Reis-Bücklers角膜营养不良家系的TGFBI基因序列分析  

Analysis of mutation in TGFBI gene in a Chinese family with Reis-Bücklers corneal dystrophy

作　　者：陈静[1] 刘春民[1] 王媛[1] 马大卉[1] 应方微[1] 

机构地区：[1]暨南大学附属深圳市眼科医院,518001

出　　处：《中国斜视与小儿眼科杂志》2014年第3期23-24,I0001,I0002,共4页Chinese Journal of Strabismus & Pediatric Ophthalmology

摘　　要：目的应用基因测序的方法,对一个常染色体显性遗传的角膜营养不良家系进行基因筛查,确定该家系的基因缺陷。方法收集一个中国人Reis-Bücklers地图状角膜营养不良家系,共4代30人,其中患者12人。对所有家系患病成员及正常同胞进行详细的临床检查及TGFBI基因编码序列分析,包括TGFBI基因的全部17个外显子,5'及'3端与外显子拼接的内含子序列。结果对TGFBI基因直接测序显示家系中所有患者在TGFBI基因的第4外显子存在杂合性突变,mRNA第371位碱基出现G→T的杂合性碱基改变,导致了野生型基因编码的Arg被Leu替代,使第124编码子发生了R124L的突变,并且该突变与疾病表型共分离。结论经序列分析确定该家系角膜营养不良患者均存在TGFBI基因第4外显子的R124L突变。Objective To identify the gene mutation in a Chinese family with Reis-Bucklers corneal dystro-phy by molecular genetic study. Methods Both affected and unaffected members in this family were examined and extracted the genome-DNA from the samples. The exons of TGFBI genes were sequenced directly. Results The clini-cal diagnosis was Reis-B＆#252;cklers corneal dystrophy. The mode of inheritance of corneal dystrophy in this family was i-dentified as autosomal dominant inheritance. Direct sequencing of all affected members revealed a G-to-T transition at codon 124,producing R124L mutation in exon 4 of TGFBI gene.No mutation of this type was identified in all unaf-fected member of this family. Conclusions Reis-Bucklers corneal dystrophy in this family is caused by R124L muta-tion of the TGFBI gene.

关 键 词：角膜营养不良 常染色体显性遗传 TGFBI基因 序列分析 

分 类 号：R772.2[医药卫生—眼科]