High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes

E Van de Vosse; P Van der Bent; J J Heus; G J Van Ommen; J T Den Dunnen

doi:10.1007/s003359900483

High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes

Mamm Genome. 1997 Jul;8(7):497-501. doi: 10.1007/s003359900483.

Authors

E Van de Vosse¹, P Van der Bent, J J Heus, G J Van Ommen, J T Den Dunnen

Affiliation

¹ MGC-Department of Human Genetics, Leiden University, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands.

PMID: 9195994
DOI: 10.1007/s003359900483

Abstract

The disease loci for X-linked Retinoschisis (RS), Keratosis follicularis spinulosa decalvans (KFSD), and Coffin-Lowry syndrome (CLS) have been localized to the same, small region in Xp22 on the human X Chromosome (Chr). To generate a high-resolution map of the available contig in this area, we have used the YAC fragmentation vectors pBP108/ADE2 and pBP109/ADE2 and generated fragmented YACs from a 2.5-Mb YAC (y939H7) spanning the mentioned disease gene candidate regions. Forty-seven fragmented YACs were generated and analyzed, ranging in size from 170 kb to over 2400 kb. The resulting YAC fragmentation panel was used to construct a detailed restriction map of the region and has been used to bin clones and markers. As a deletion panel, it will present a valuable resource for further mapping.

MeSH terms

Abnormalities, Multiple / genetics
Blotting, Southern
Bone Diseases, Developmental / genetics*
Chromosome Mapping / methods*
Chromosomes, Artificial, Yeast
Cloning, Molecular
Cosmids
DNA Fragmentation
Darier Disease / genetics*
Electrophoresis, Gel, Pulsed-Field
Genetic Markers
Humans
Intellectual Disability / genetics
Restriction Mapping
Retinal Degeneration / genetics*
Syndrome
X Chromosome*

Substances

Genetic Markers