|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0012634,
umls-concept:C0017337,
umls-concept:C0086418,
umls-concept:C0205147,
umls-concept:C0206665,
umls-concept:C0265252,
umls-concept:C0332256,
umls-concept:C0332472,
umls-concept:C0343084,
umls-concept:C1283195,
umls-concept:C1413509,
umls-concept:C1416629,
umls-concept:C1520175,
umls-concept:C1547179,
umls-concept:C1881708,
umls-concept:C2748527
|
|
pubmed:issue |
7
|
|
pubmed:dateCreated |
1997-7-31
|
|
pubmed:abstractText |
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.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jul
|
|
pubmed:issn |
0938-8990
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
8
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
497-501
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:9195994-Abnormalities, Multiple,
pubmed-meshheading:9195994-Blotting, Southern,
pubmed-meshheading:9195994-Bone Diseases, Developmental,
pubmed-meshheading:9195994-Chromosome Mapping,
pubmed-meshheading:9195994-Chromosomes, Artificial, Yeast,
pubmed-meshheading:9195994-Cloning, Molecular,
pubmed-meshheading:9195994-Cosmids,
pubmed-meshheading:9195994-DNA Fragmentation,
pubmed-meshheading:9195994-Darier Disease,
pubmed-meshheading:9195994-Electrophoresis, Gel, Pulsed-Field,
pubmed-meshheading:9195994-Genetic Markers,
pubmed-meshheading:9195994-Humans,
pubmed-meshheading:9195994-Intellectual Disability,
pubmed-meshheading:9195994-Restriction Mapping,
pubmed-meshheading:9195994-Retinal Degeneration,
pubmed-meshheading:9195994-Syndrome,
pubmed-meshheading:9195994-X Chromosome
|
|
pubmed:year |
1997
|
|
pubmed:articleTitle |
High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.
|
|
pubmed:affiliation |
MGC-Department of Human Genetics, Leiden University, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands.
|
|
pubmed:publicationType |
Journal Article
|
