An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.

Journal Article (Journal Article)

To facilitate the positional cloning of the genes involved in retinoschisis (RS), keratosis follicularis spinulosa decalvans (KFSD), Coffin-Lowry syndrome (CLS), X-linked hypophosphatemic rickets (XLH, locus name HYP) and X-linked dominant cone-rod degeneration (locus name RP15), we have extended the molecular map of the Xp22 region. Screening of several YAC libraries allowed us to identify 156 YACs, 52 of which localize between markers DXS414 (P90) and DXS451 (kQST80H1). Analysis of their marker content facilitated the construction of a YAC contig from the region spanning (in this order): DXS414 - DXS987 - DXS207 - DXS1053 - DXS197 - DXS 43 - DXS1195 - DXS418 - DXS999 - PDHA1 - DXS7161 - DXS443 - DXS 7592 - DXS1229 - DXS365 - DXS7101 - DXS7593 - DXS1052 - DXS274 - DXS989 - DXS451. The region between DXS414 and DXS451 covers about 4.5-5 Mb. Two additional markers (DXS7593 and DXS7592) were placed in the region, thereby increasing the genetic resolution. Using the deduced marker order, the analysis of key recombinants in families segregating RS allowed us to refine the critical region for RS to 0.6 Mb, between DXS418 and DXS7161.

Full Text

Duke Authors

Cited Authors

  • Van de Vosse, E; Bergen, AA; Meershoek, EJ; Oosterwijk, JC; Gregory, S; Bakker, B; Weissenbach, J; Coffey, AJ; van Ommen, GJ; Den Dunnen, JT

Published Date

  • 1996

Published In

Volume / Issue

  • 4 / 2

Start / End Page

  • 101 - 104

PubMed ID

  • 8744027

International Standard Serial Number (ISSN)

  • 1018-4813

Digital Object Identifier (DOI)

  • 10.1159/000472177


  • eng

Conference Location

  • England