Linked Life Data

8020975

Source:http://linkedlifedata.com/resource/pubmed/id/8020975

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1994-8-4
pubmed:abstractText
The gene for the alpha 1 (III) chain of type III collagen, COL3A1, has been previously mapped to human chromosome 2q24.3-q31 by in situ hybridization. Physical mapping by pulsed-field gel electrophoresis has demonstrated that COL3A1 lies within 35 kb of COL5A2. We genotyped the CEPH families at the COL3A1 locus using a pentanucleotide repeat polymorphism within intron 25. We demonstrated significant linkage to 18 anonymous markers as well as the gene for carbamyl phosphate synthetase (CPSI), which we have previously mapped to this region. No recombination was seen between COL3A1 and COL5A2 (Z = 9.93 at theta = 0) or D2S24 (Z = 10.55 at theta = 0). The locus order is (D2S32-D2S138-D2S148)--(D2S24-COL5A2-CO L3A1)--(D2S118-D2S161), with odds of 1:2300 for the next most likely order. These relationships are consistent with the physical mapping of COL3A1 to the distal portion of 2q and place it proximal to CPSI by means of multipoint analysis. These linkage relationships should prove useful in further studies of Ehlers-Danlos syndrome type IV and carbamyl phosphate synthetase I deficiency and provide an additional framework for localizing other genes in this region.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
20
pubmed:geneSymbol
COL3A1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
275-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
pubmed:affiliation
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee 37232-2578.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.