Linked Life Data

9245991

Source:http://linkedlifedata.com/resource/pubmed/id/9245991

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1997-8-26
pubmed:abstractText
Genome-mismatch scanning (GMS) is a new method of linkage analysis that rapidly isolates regions of identity between two genomes. DNA molecules from regions of identity by descent from two relatives are isolated based on their ability to form extended mismatch-free heteroduplexes. We have applied this rapid technology to identify the chromosomal region shared by two fifth-degree cousins with autosomal dominant iridogoniodysgenesis anomaly (IGDA), a rare ocular neurocristopathy. Markers on the short arm of human chromosome 6p were recovered, consistent with the results of conventional linkage analysis conducted in parallel, indicating linkage of IGDA to 6p25. Control markers tested on a second human chromosome were not recovered. A GMS error rate of approximately 11% was observed, well within an acceptable range for a rapid, first screening approach, especially since GMS results would be confirmed by family analysis with selected markers from the putative region of identity by descent. These results demonstrate not only the value of this technique in the rapid mapping of human genetic traits, but the first application of GMS to a multicellular organism.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-13313518, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-2931976, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-3020511, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-4624765, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-5804028, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-6839205, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-7668281, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-7762570, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-7774569, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-8037215, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-8317489, http://linkedlifedata.com/resource/pubmed/commentcorrection/9245991-8513319
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
61
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
111-9
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning.
pubmed:affiliation
Department of Ophthalmology, University of Alberta, Edmonton, Canada.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't