家族性渗出性玻璃体视网膜病遗传异质性的进一步证据:在一个常染色体显性遗传大家系中排除EVR1,EVR3,EVR4

作     者：Toomes C. Downey L.M. Bottomley H.M. 王海燕 

作者机构：MolecularMedicineUnit Clinical Sciences Building St. James' s University Hospital Leeds LS9 7TF United Kingdom 

出 版 物：《世界核心医学期刊文摘（眼科学分册）》 (Digest of the World Core Medical Journals:Ophthalmology)

年 卷 期：2005年第1卷第6期

页      面：29-29页

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

主　　题：玻璃体视网膜 EVR1,EVR3,EVR4 渗出性 族性 视网膜血管 遗传异质性 连锁分析 聚合酶链反应 基因位点 测序仪 

摘      要：Background/aims: Familial exudative vitreoretinopathy (FEVR) is an inherited blinding condition characterised by abnormal development of the retinal vasculature. The aim of this study was to perform linkage analysis in a large family affected with FEVR to determine whether the mutation involved was in one of the three known autosomal dominant FEVR loci or in another as yet unidentified gene. Methods: Genomic DNA samples from family members were polymerase chain reaction (PCR) amplified with fluorescently tagged microsatellite markers spanning the EVR1/EVR4 locus (11q13- 14) and the EVR3 locus (11p12- 13). The resulting PCR products were resolved using an automated DNA sequencer and the alleles sized. These data were used to construct haplotypes across each locus and linkage analysis was performed to prove or exclude linkage. Results: The clinical evaluation in this family suggested features typical of FEVR, with deficient peripheral retinal vascularisation being the common phenotype in all affected individuals. However, linkage analysis proved that this family has a form of FEVR genetically distinct from the EVR1, EVR3 and EVR4 loci. Conclusion: The exclusion of linkage in this family to any of the known FEVR loci proves the existence of a fourth locus for autosomal dominant FEVR and shows that this rare disorder is far more heterogeneous than previously thought.