Linked Life Data

15125225

Source:http://linkedlifedata.com/resource/pubmed/id/15125225

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-5-5
pubmed:abstractText
The review considers the epigenetic defects and their diagnostics in several hereditary disorders and tumors. Aberrant methylation of the promoter or regulatory region of a gene results in its functional inactivation, which is phenotypically similar to structural deletion. Screening tests were developed for Prader-Willi, Angelman, Wiedemann-Beckwith, and Martin-Bell syndromes and mental retardation FRAXE. The tests are based on allele methylation analysis by methylation-specific or methylation-sensitive PCR. Carcinogenesis-associated genes (RB1, CDKN2A, ARF14, HIC1, CDI, etc.) are often methylated in tumors. Tumors differ in methylation frequencies, allowing differential diagnostics. Aberrant methylation of tumor suppressor genes occurs in early carcinogenesis, and its detection may be employed in presymptomatic diagnostics of tumors.
pubmed:language
rus
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0026-8984
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
213-23
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Diagnostics for epigenetic pathology in hereditary and oncologic diseases].
pubmed:affiliation
Medical Genetic Research Center, Russian Academy of Medical Sciences, Institute of Molecular Medicine, Sechenov Medical Academy, Ministry of Health of the Russian Federation, Moscow, Russia. zalnem@online.ru
pubmed:publicationType
Journal Article, English Abstract, Review