Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

被引：0

作者：

E. van de Vosse

Brunella Franco

P. van der Bent

Eugenio Montini

Ulrike Orth

Andre Hanauer

N. Tijmes

G.-J. B. van Ommen

Andrea Ballabio

J. T. den Dunnen

Arthur A. B. Bergen

机构：

[1] MGC-Department of Human Genetics,

[2] Leiden University,undefined

[3] Wassenaarseweg 72,undefined

[4] NL-2333 AL Leiden,undefined

[5] The Netherlands Tel.: +31-71-5276105; Fax: +31-71-5276075 e-mail: ddunnen@ruly46.MedFac.Leidenuniv.NL,undefined

[6] Telethon Institute of Genetics and Medicine,undefined

[7] Via Olgettina 58,undefined

[8] I-20132 Milano,undefined

[9] Italy,undefined

[10] Institut für Humangenetik,undefined

[11] UKE,undefined

[12] Butenfeld 42,undefined

[13] D-22529 Hamburg,undefined

[14] Germany,undefined

[15] Institut de Genetique et de Biologie Moleculaire et Cellulaire,undefined

[16] CNRS,undefined

[17] INSERM,undefined

[18] F-67404 Illkirch,undefined

[19] France,undefined

[20] The Netherlands Ophthalmic Research Institute,undefined

[21] P.O. Box 12141,undefined

[22] NL-1100 AC Amsterdam,undefined

[23] The Netherlands,undefined

来源：

Human Genetics | 1997年 / 101卷

关键词：

Candidate Gene; Gene Region; Mutation Analysis; Human Homologue; Retinal Degeneration;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

X-linked juvenile retinoschisis (RS) is a progressive vitreoretinal degeneration localised in Xp22.1-p22.2. A human homologue of the retinal degeneration gene C (rdgC), a gene that in Drosophila melanogaster prevents light-induced retinal degeneration, was localised in the RS obligate gene region. We have tested the gene, designated PPEF in humans, as a candidate gene in RS patients using RT-PCR and the protein truncation test on RNA and SSCP on DNA. No mutations were identified, making it highly unlikely that PPEF is the gene implicated in RS. The data presented facilitate mutation analysis of the PPEF gene in other diseases which have been or will be localised to this region.

引用

页码：235 / 237

页数：2