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Stufy on the TGFBI gene in a Chinese family with epithelial basement membrane dystrophy

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Author:: No author available

Journal Title:: INTERNATIONAL EYE SCIENCE

Issue:: 10

DOI:: 10.3969/j.issn.1672-5123.2012.10.72

Key Word:: TGFBI基因;上皮基底膜角膜营养不良;基因突变

Abstract：目的:检测1例中国上皮基底膜角膜营养不良家系TGFBI基因突变类型.方法:经过详细的病史采集及临床检查后,提取先证者及其家系内其他2例患者和4例有血缘关系的正常家系成员的静脉血白细胞DNA,应用PCR直接测序法对TGFBI的17个外显子进行候选基因的突变检测.结果:在该家系患者的TGFBI基因4号外显子发现了c.417C>T,导致了杂合突变R124C.家系中正常成员及对照组均未检测到该突变.结论:本研究首次报道了TGFBI基因的R124C杂合突变导致了上皮基底膜角膜营养不良,拓宽了角膜营养不良的基因型与表现型关系,为进一步的分子遗传学研究奠定了基础.

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