Positional cloning in Xp22 : towards the isolation of the gene involved in X-linked retinoschisis

Vosse, E. van de (1998)

Doctoral Thesis

The study was aimed at the positional cloning of disease genes in Xp22.1-p22.2. To this end a YAC contig covering this region was constructed. To identify candidate genes for the diseases localised in this region exon trapping was applied. Several novel transcripts were isolated from the region, of which one was analysed in detail.

• keratosis follicularis spinulosa decalvans
• exon trapping
• X-linked retinoschisis
• positional cloning
• X-linked retinitis pigmentosa
• Xp22
• genetics
• X chromosome

• All authors: Vosse, E. van de
• Supervisor: Ommen, G.J.B. van
• Co-supervisor: Dunnen, J.T. den
• Qualification: Doctor (dr.)
• Awarding Institution: Leiden University Medical Center (LUMC), Leiden University
• Date: 1998-01-07
• ISBN (print): 9090111107
• Court: Anthropogenetica UL