Linked Life Data

20171600

Source:http://linkedlifedata.com/resource/pubmed/id/20171600

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2010-2-22
pubmed:abstractText
Populations in Southeast Asia and South China have high frequencies of alpha-thalassemia caused by alpha-globin gene mutations and/or deletions. This study was designed to find an efficient and simple diagnostic test for the mutations and deletions. A duplex polymerase chain reaction (PCR)/denaturing high-pressure liquid chromatography (DHPLC) was used to detect the mutations and deletions. A blinded study of 110 samples, which included 92 alpha-thalassemia samples with various genotypes and 18 normal DNA samples, was carried out by the methods. The duplex PCR products of the sample with known Constand spring mutation (CS)/alphaalpha, Quonsze mutation (QS)/alphaalpha, and Weastmead mutation (WS)/alphaalpha DNA showed significantly different profiles, which suggests that DHPLC analysis at 63.8 degrees C can detect potential mutations directly. The DHPLC at 50 degrees C analysis can distinguish the --SEA and nondeletional alleles. The new assay is 100% concordant with the original genotype. In conclusion, the technique including the duplex PCR assay followed by DHPLC analysis can be used to diagnose alpha-thalassemia; this methodology is simple, rapid, accurate, semiautomatic, and high output, and thus, it is suitable for large-scale screening.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1878-1810
pubmed:author
pubmed:copyrightInfo
Copyright 2010 Mosby, Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
155
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
148-55
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Novel technique for rapid detection of alpha-globin gene mutations and deletions.
pubmed:affiliation
Basic Medical Research Center, Beijing Chaoyang Hospital, Affiliate of The Capital Medical University, Beijing, China 100020. liujingzhong090525@hotmail.com
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't