Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Chin Med J (Engl). 2009 Nov 20;122(22):2691-4.
Mutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the role of this gene in a Chinese family affected by granular corneal dystrophy (GCD).
Family history and phenotypic data were recorded. The diagnosis of GCD was made on the basis of clinical evaluation. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intron-exon boundary sequences of TGFbetaI were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing.
A heterozygous C to T transition at nucleotide c.1663 (CGG to TGG R555W) of TGFbetaI gene was present in two affected members but was absent in the rest of the family members.
A recurrent pathogenic R555W of TGFbetaI gene mutation is identified, which appears to be the predominant mutations causing GCD in different populations.
转化生长因子β I (TGFBI) 基因突变可引起几种常染色体显性角膜营养不良。我们研究了该基因在一个受颗粒状角膜营养不良（GCD）影响的中国家族中的作用。
记录家族史和表型数据。根据临床评估诊断 GCD。从外周血白细胞中提取基因组 DNA。通过聚合酶链反应（PCR）扩增 TGFbetaI 的所有外显子和侧翼内含子-外显子边界序列，并通过直接 DNA 测序筛选突变。
TGFbetaI 基因核苷酸 c.1663（CGG 至 TGG R555W）处存在杂合 C 到 T 转换，两个受影响的成员中存在该突变，但其余家族成员中不存在。
鉴定出 TGFbetaI 基因 R555W 频发的致病性突变，该突变似乎是不同人群中引起 GCD 的主要突变。
