Linked Life Data

8258302

Source:http://linkedlifedata.com/resource/pubmed/id/8258302

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1994-1-19
pubmed:abstractText
Reciprocal chromosome translocations with no apparent loss of material are the most common de novo structural rearrangements in man. The large majority of these cases have been characterized cytogenetically but very few have been investigated at the molecular level. Using fluorescence in situ hybridization (FISH) we have studied the organization of the tumor suppressor gene RB1 in a patient with retinoblastoma and a rearrangement between chromosomes 4 and 13. In addition to the hybridization signal on the normal chromosome 13, three distinct sites of hybridization of RB1 probes on the translocated chromosomes were detected. These findings show that a complex rearrangement occurred involving at least three breaks on chromosome 13, two of them in the RB1 gene. This also demonstrates that FISH, which offers resolution between that of fine molecular methods and classical cytogenetics, is a valuable tool for investigating organization of sequences at breakpoints of chromosomal rearrangements.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0301-0171
pubmed:author
pubmed:issnType
Print
pubmed:volume
65
pubmed:geneSymbol
RB1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
268-71
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated by FISH.
pubmed:affiliation
Department of Biology, University of São Paulo, Brazil.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't