Linked Life Data

10970731

Source:http://linkedlifedata.com/resource/pubmed/id/10970731

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-11-20
pubmed:abstractText
GNAS1, which is located in the chromosomal region 20q13.3, gives rise to maternally, paternally or bi-allelically expressed transcripts including the one that encodes the alpha subunit of the stimulatory G protein. Numerous naturally occurring mutations of this gene have been identified in several different disorders including certain forms of pseudohypoparathyroidism, progressive osseous heteroplasia, McCune-Albright syndrome and acromegaly. Polymorphic markers currently employed in the genetic evaluation of these disorders frequently prove uninformative owing to a low heterozygosity value associated with each marker. We searched for potentially polymorphic tandem repeats close to the GNAS1 locus, and identified two new, highly polymorphic loci that are located within a;48-kb region immediately downstream of this gene. These new microsatellite markers, with their high polymorphism information content, may prove to be useful in genetic studies related to GNAS1 as well as to other genes located in the flanking genomic region.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0890-8508
pubmed:author
pubmed:copyrightInfo
Copyright 2000 Academic Press.
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
261-4
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Identification and characterization of two new, highly polymorphic loci adjacent to GNAS1 on chromosome 20q13.3.
pubmed:affiliation
Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.