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A study concerning the association between genotype and phenotype in the inherited ocular diseases

遗传性眼病基因型与表型关联性的研究

基本信息

批准号：
10671656
负责人：
HOTTA Yoshihiro
金额：
$ 1.98万
依托单位：
Hamamatsu University School of Medicine (2000)Juntendo University (1998-1999)
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
1998
资助国家：
日本
起止时间：
1998 至 2000
项目状态：
已结题

项目摘要

Most cases with choroideremia, juvenile retinoschisis and fundus albipunatatus (FA) were caused by the mutations of REP-1, XLRS1 and RDH5 genes respectively. No genotype-phenotype co-relation was recognized in these three diseases. Cone dysfunction was sometimes associated with FA.Since genetic analysis revealed that most of cases with FA associate cone dysfunction in their forties, FA is not stationary but progressive disease.Tight genotype-phenotype co-relation was recognized in the corneal dystophies. Granular, Avellino, lattice type 1, lattice type 3, Reis-Bucklers corneal dystrophies were caused by R555W, R124H, both R124C and L518P, L527R, R555Q mutations of βig-h3 gene respectively. Homozygote of the R124H mutation of the βig-h3 gene shows severe clinical finding. Although most of lattice type 3 corneal dystrophy in Kansai area were caused by a P501T mutation of the βig-h3 gene, cases in Kanto and Chubu area were caused by the L527R mutation.Myocilin/TIGR gene mutations were found in glaucoma patients at the rate of 3%, not so high. Genetic heterogeneity is observed in glaucoma patients and no genotype-phenotype co-relation was recognized. Large deletion in promoter area of the red green gene was recognized in a Japanese family with blue-cone monochromatism. Leber hereditary optic neuropathy caused by the mitochondria mutations in nucleotide position 14484 and 3460. No genotype-phenotype co-relation was recognized in our cases.

大多数无脉络膜血症、青少年视网膜劈裂症和白点眼底（FA）病例分别是由REP-1、XLRS1和RDH5基因突变引起的。在这三种疾病中没有发现基因型-表型相关性。视锥细胞功能障碍有时与 FA 相关。由于遗传分析显示，大多数 FA 病例与四十多岁的视锥细胞功能障碍有关，因此 FA 不是静止的，而是进行性疾病。在角膜营养不良中发现了紧密的基因型-表型相关性。颗粒状、Avellino、格子1型、格子3型、Reis-Bucklers角膜营养不良分别由βig-h3基因R555W、R124H、R124C和L518P、L527R、R555Q突变引起。 βig-h3 基因 R124H 突变的纯合子显示出严重的临床表现。虽然关西地区的格子3型角膜营养不良大多是由βig-h3基因的P501T突变引起的，但关东和中部地区的病例是由L527R突变引起的。青光眼患者中Myocilin/TIGR基因突变的发生率为3%，并不高。在青光眼患者中观察到遗传异质性，并且没有发现基因型-表型相关性。在一个具有蓝锥体单色性的日本家族中发现了红绿基因启动子区的大缺失。 Leber 遗传性视神经病由核苷酸位置 14484 和 3460 的线粒体突变引起。在我们的病例中没有发现基因型-表型相关性。