Linked Life Data

16202954

Source:http://linkedlifedata.com/resource/pubmed/id/16202954

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2005-10-5
pubmed:abstractText
A high-capacity low-cost mutation scanning method based on denaturing high-performance liquid chromatography (DHPLC) has been recently introduced. We have implemented an automated and cost-effective strategy using DHPLC. To facilitate the semi-automated analysis of multiple exons, two steps were taken. The first step was the development of a PCR protocol for the amplification of multiple exons under the same conditions. Primer sets, which amplify each exon in the entire gene, were aliquoted to and air-dried on a 96-well format PCR plate. In this way, all the exons in a gene can be simultaneously amplified on a single PCR machine. The second step was the serial DHPLC analysis of multiple amplicons under conditions optimal for each amplicon. We named the 96-well plate containing the primer pairs and the corresponding computer file used to analyze each amplicon under the pre-determined optimal conditions as the "Condition-Oriented-PCR primer-Embedded-Reactor plate," or the COPPER plate. We have developed COPPER plate systems for more than 20 congenital disorders including classic congenital syndromes like Marfan syndrome (FBN1: 65 amplicons), CHARGE syndrome (CHD7: 39 amplicons), de Lange syndrome (NIPBL: 46 amplicons), Sotos syndrome (NSD1: 30 amplicons), and Rubinstein-Taybi syndrome (CREBBP: 41 amplicons). Using the COPPER plate system, we are functioning as a reference laboratory for the clinical molecular diagnosis of congenital malformation syndromes and are presently analyzing more than 200 samples annually from all over Japan.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1096-7192
pubmed:author
pubmed:issnType
Print
pubmed:volume
86
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
117-23
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
DHPLC in clinical molecular diagnostic services.
pubmed:affiliation
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. kkosaki@sc.itc.keio.ac.jp
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't