携带尿黑酸1,2-双加氧酶基因突变的尿黑酸尿症患者的眼部褐黄病
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
作者信息
Felbor U, Mutsch Y, Grehn F, Müller C R, Kress W
机构信息
Augenklinik, Universität Würzburg, Würzburg, Germany.
出版信息
Br J Ophthalmol. 1999 Jun;83(6):680-3. doi: 10.1136/bjo.83.6.680.
Abstract
AIMS
To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea.
METHODS
A mutation screen of the entire coding region of the HGO gene was performed using single stranded conformational analysis after polymerase chain reaction with oligonucleotide primers flanking all 14 exons of the HGO gene. Fragments showing aberrant mobility were directly sequenced.
RESULTS
Two homozygous missense mutations, L25P and M368V, were identified, each of which leads to the replacement of a highly conserved amino acid in the HGO protein.
CONCLUSIONS
The authors describe a novel mutation, L25P, in the German population and bring to 18 the total number of known HGO mutations.
摘要
目的
在两名患有结膜、巩膜和角膜褐黄病的非亲缘关系患者中，评估最近鉴定出的人类尿黑酸1,2-双加氧酶基因（HGO）与尿黑酸尿症（AKU）的关联。
方法
使用聚合酶链反应后单链构象分析，对HGO基因的整个编码区进行突变筛查，所用寡核苷酸引物位于HGO基因所有14个外显子两侧。对显示异常迁移率的片段进行直接测序。
结果
鉴定出两个纯合错义突变，L25P和M368V，每个突变均导致HGO蛋白中一个高度保守的氨基酸被替换。
结论
作者在德国人群中描述了一种新的突变L25P，并使已知的HGO突变总数达到18个。
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