Linked Life Data

7959682

Source:http://linkedlifedata.com/resource/pubmed/id/7959682

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1994-12-15
pubmed:abstractText
The retinoblastoma susceptibility (RB1) gene contains an unmethylated CpG-rich island at its 5' end. Using methylation-sensitive restriction enzymes, we have investigated the methylation status of this island in 21 sporadic unilateral retinoblastomas and 30 hereditary retinoblastomas. Three sporadic unilateral tumors were found to have hypermethylated RB1 alleles. In two tumors, the paternal allele was methylated, whereas the maternal allele had been lost. Cultured cells from one of these tumors were studied by the reverse transcription polymerase chain reaction and found to have a reduced level of RB1 mRNA. The third tumor had retained constitutional heterozygosity, and the paternal allele was specifically methylated. The combined data from previously published reports and from this study show that hypermethylation of the RB1 gene occurs in 13% of sporadic unilateral tumors and may reduce gene activity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
94
pubmed:geneSymbol
RB1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
491-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma.
pubmed:affiliation
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't