Linked Life Data

8926652

Source:http://linkedlifedata.com/resource/pubmed/id/8926652

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1996-11-7
pubmed:abstractText
Gene diagnosis is essential for confident presymptomatic prediction, genetic counseling, and early management of hereditary retinoblastoma. In screening the leukocyte DNA of three patients with bilateral retinoblastoma for RB1-gene heterozygous germline mutations, we identified mutations involving exon 3 or 18 of the RB1 gene by using heteroduplex analysis and sequencing. In one case the mutation was a 2 bp GT deletion resulting in the loss of the exon 18 splicing-donor; another mutation was a G-to-T transversion at codon 580 in exon 18, which converts Arg to a stop codon. The third mutation involved in 1 bp deletion at codon 96 in exon 3, which leads to a premature stop codon at codon 110. We used information from this heteroduplex technique for genetic counseling and presymptomatic prediction. A newborn was identified as normal, using gene diagnosis; his 15-month follow-up confirmed our prediction.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0021-5155
pubmed:author
pubmed:issnType
Print
pubmed:volume
39
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
432-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Mutation detection and genetic counseling in retinoblastoma using heteroduplex analysis.
pubmed:affiliation
Department of Ophthalmology, Teikyo University Ichihara Hospital, Chiba, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't