Linked Life Data

20721741

Source:http://linkedlifedata.com/resource/pubmed/id/20721741

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2010-8-19
pubmed:abstractText
Denaturing high performance liquid chromatography (DHPLC) facilitates automated mutation scanning of PCR products with the ability to detect nearly 100% of sequence variants including single nucleotide substitutions and small insertions or deletions. It has particular application for genetic screening in inherited conditions; both for the initial identification of a mutation in disease carriers followed by sequence analysis, and for screening "at-risk" individuals prior to the development of disease in families with a known mutation. Specifically, in familial cancer syndromes, DHPLC has been reported as a genetic screening tool for the risk of developing breast and ovarian cancer (BRCA1), von Hippel Lindau disease (VHL), Cowden syndrome (PTEN), and Multiple Endocrine Neoplasia types 1 and 2 (MEN1 and RET). This chapter focuses on the methodologies specific to the WAVE System for Mutation Detection 2100 (Transgenomic Inc., Omaha, NE, USA) and highlights the use of Navigator software (Transgenomic Inc.), including data analysis with scatter graphs.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1940-6029
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
653
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
133-45
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
The use of denaturing high performance liquid chromatography (DHPLC) for mutation scanning of hereditary cancer genes.
pubmed:affiliation
Royal North Shore Hospital, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't