Linked Life Data

14679580

Source:http://linkedlifedata.com/resource/pubmed/id/14679580

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-12-17
pubmed:abstractText
Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly. The clinical diagnosis of these two conditions is difficult, making mutation screening of SLC26A4 a valuable test. Although screening can be accomplished in a variety of ways, all techniques are not equally accurate, timely or cost effective. We found single-strand conformational polymorphism analysis (SSCP) to be 63% effective in detecting mutations a panel of different SLC26A4 allele variants when compared to data from direct sequencing. Because direct sequencing can be time consuming and expensive, especially for a gene with 21 exons, we studied DHPLC as an alternative screening method. We found DHPLC as accurate and reliable as direct sequencing but to be more rapid and cost effective. In addition, we report 11 novel disease-causing allele variants of SLC26A4.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
124A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:14679580-Biological Transport, pubmed-meshheading:14679580-Carrier Proteins, pubmed-meshheading:14679580-Chromatography, High Pressure Liquid, pubmed-meshheading:14679580-DNA Mutational Analysis, pubmed-meshheading:14679580-DNA Primers, pubmed-meshheading:14679580-Diagnosis, Differential, pubmed-meshheading:14679580-Genetic Testing, pubmed-meshheading:14679580-Goiter, pubmed-meshheading:14679580-Hearing Loss, Sensorineural, pubmed-meshheading:14679580-Humans, pubmed-meshheading:14679580-Membrane Transport Proteins, pubmed-meshheading:14679580-Polymorphism, Genetic, pubmed-meshheading:14679580-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:14679580-Sensitivity and Specificity, pubmed-meshheading:14679580-Sequence Analysis, DNA, pubmed-meshheading:14679580-Sulfates, pubmed-meshheading:14679580-Syndrome
pubmed:year
2004
pubmed:articleTitle
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
pubmed:affiliation
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't, Evaluation Studies