Linked Life Data

9881906

Source:http://linkedlifedata.com/resource/pubmed/id/9881906

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1999-3-23
pubmed:abstractText
Abnormalities in the ret proto-oncogene are found in several disorders such as multiple endocrine neoplasia (MEN) 2, sporadic medullary thyroid cancer, congenital megacolon and papillary thyroid cancer. In MEN 2A or 2B, early genetic diagnosis before the development of clinical tumors is crucial for the cure of the disease. We studied mutations of ret proto-oncogene in 3 Korean families with MEN 2A and searched for new restriction sites that could be used for genetic diagnosis. By direct sequencing of exon 10 and 11 harboring 'hot' spots, heterozygous point mutation was detected at positions translating cysteine codon in all 3 families. In 2 families, mutations at codon 634 in exon 11 were found (from TGC to CGC or TAC), yielding a new CfoI or RsaI restriction site. In one family, a mutation was located at codon 618 in exon 10 (from TGC to CGC), generating a new CfoI restriction site. These new restriction sites were used in detecting 2 undiagnosed family members without clinical symptoms or signs. In one of them, thyroidectomy was performed to disclose a small medullary thyroid cancer. These results indicate that Korean MEN 2A patients have germ-line mutations in the ret protooncogene at the cysteine residues like patients of other races, and the strategy employing direct sequencing to find mutations at 'hot spot' and search for ensuing new restriction sites could be a useful approach for the molecular diagnosis of genetic diseases accompanied by mutations in restricted areas of disease genes such as MEN 2.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0918-8959
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
555-61
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Mutations of ret proto-oncogene in 3 Korean families with MEN 2A: clinical use of new restriction sites for genetic diagnosis.
pubmed:affiliation
Department of Medicine, Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul, Korea.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't