Linked Life Data

12885338

Source:http://linkedlifedata.com/resource/pubmed/id/12885338

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-7-29
pubmed:abstractText
Mutations in the Connexin-26 gene are responsible for up to 60% of nonsyndromic, neurosensory autosomal recessive deafness (NSRD). Amongst all the mutations described to date, 35delG (a deletion of a G in a tract of five Gs at positions 30-35) is the most common and has been found in virtually all of the populations studied. Because its frequency varies in different populations, a rapid and simple method of detection of this mutation would be very helpful in population studies. A wide variety of methods for this detection have been described, but we herein present a very simple method using a PCR with primers designed to provide an amplicon of 94 or 93 nucleotides for the normal or mutant alleles, respectively, that can be easily distinguished in an 8% polyacrylamide gel. The entire protocol can be completed in a morning, thus supporting multiple runs. This assay will be useful in screening the large sample sizes required for population studies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1090-6576
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
147-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness.
pubmed:affiliation
Laboratorio de genética molecular, Servicio de Análisis Clínicos, Hospital Materno-Infantil, 35016-Las Palmas de Gran Canaria, Canary Islands, Spain. m.fernande.012@recol.es
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't