[四个中国角膜营养不良家系中TGFBI基因突变谱分析]

[Analyses of TGFBI gene mutation spectrum in four Chinese families with corneal dystrophy].

作者信息

Zhang Yanling, Ying Jinglu, Zhou Weiping, Zhu Leru, Cai Jianqiu

机构信息

School of Medical Technology and Nursing, Shenzhen Polytechnic, Shenzhen 518055, China. Email:

出版信息

Zhonghua Yi Xue Za Zhi. 2015 Jan 13;95(2):116-9.

PMID:25876897

Abstract

OBJECTIVE

To identify the genetic mutation of TGFBI gene in four Chinese families with corneal dystrophy. The pedigrees were Reis-Bücklers corneal dystrophy (RBCD), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I(LCDI) and lattice corneal dystrophy type I/IIIA (LCDI/IIIA) (n = 1 each).

METHODS

Genomic DNA was extracted from leukocytes from 22 patients, 22 phenotypic normal family members and 100 normal controls from February 2010 to October 2012. And 17 exons of TGFBI gene were amplified by polymerase chain reaction and sequenced directly. The corneas were examined with slit-lamp biomicroscope and photographed.

RESULTS

Mutations of TGFBI gene occurred in all 22 patients, including R124L (c.371G > T) in 14 patients with RBCD, R124H (c.371G > A) mutation in 1 patient with ACD, R124C (c.370C > T) mutation in 3 patients with LCDIand H626R (c.1877A > G) mutation in 4 patients with LCD I/IIIA. The mutations were absent in all participating unaffected family members and normal controls.

CONCLUSIONS

TGFBI gene-linked corneal dystrophy has close genotype-phenotype relationship. And R124 is a mutant hotspot of TGFBI gene of corneal dystrophy.

摘要

目的

鉴定4个中国角膜营养不良家系中TGFBI基因的基因突变情况。这4个家系分别为Reis-Bücklers角膜营养不良（RBCD）、Avellino角膜营养不良（ACD）、I型格子状角膜营养不良（LCDI）和I/IIIA型格子状角膜营养不良（LCDI/IIIA）（每个家系各1个）。

方法

于2010年2月至2012年10月从22例患者、22例表型正常的家庭成员及100名正常对照者的白细胞中提取基因组DNA。采用聚合酶链反应扩增TGFBI基因的17个外显子并直接测序。用裂隙灯显微镜检查角膜并拍照。

结果

所有22例患者均发生TGFBI基因突变，其中14例RBCD患者发生R124L（c.371G>T）突变，1例ACD患者发生R124H（c.371G>A）突变，3例LCDI患者发生R124C（c.370C>T）突变，4例LCDI/IIIA患者发生H626R（c.1877A>G）突变。所有参与研究的未患病家庭成员及正常对照者均未检测到这些突变。