Linked Life Data

8466489

Source:http://linkedlifedata.com/resource/pubmed/id/8466489

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1993-5-3
pubmed:abstractText
DNA was prepared from peripheral blood mononuclear cells of 114 Chinese with low erythrocyte mean corpuscular volume and analyzed by allele-specific DNA amplification for the presence of mutant alleles in the beta-globin gene that account for about 90% of beta-thalassemia in Chinese. A total of 9 mutations of the five most frequent mutant alleles were detected in 8 individuals. All mutant sequences were confirmed later by DNA sequencing. However, no mutation of these mutant alleles was detected in the remaining 106 individuals with low erythrocyte mean corpuscular volume including 22 who also had Hb A2 content of 6.0% or more. Our results seem to suggest that the presence of beta-thalassemia allele does not correlate very well with red blood cell indices and that direct DNA analysis by allele-specific DNA amplification is an accurate method to identify beta-thalassemia heterozygotes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0006-291X
pubmed:author
pubmed:issnType
Print
pubmed:day
31
pubmed:volume
191
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1118-23
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Detection of beta-thalassemia carrier by direct analysis of beta-globin gene lesions.
pubmed:affiliation
Department of Biochemistry, Chang Gung Medical College, Chang Gung Memorial Hospital, Taipei, Taiwan, Republic of China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't