Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
1989-5-24
pubmed:abstractText
A rapid nonradioactive approach to the diagnosis of sickle cell anemia is described based on an allele-specific polymerase chain reaction (ASPCR). This method allows direct detection of the normal or the sickle cell beta-globin allele in genomic DNA without additional steps of probe hybridization, ligation, or restriction enzyme cleavage. Two allele-specific oligonucleotide primers, one specific for the sickle cell allele and one specific for the normal allele, together with another primer complementary to both alleles were used in the polymerase chain reaction with genomic DNA templates. The allele-specific primers differed from each other in their terminal 3' nucleotide. Under the proper annealing temperature and polymerase chain reaction conditions, these primers only directed amplification on their complementary allele. In a single blind study of DNA samples from 12 individuals, this method correctly and unambiguously allowed for the determination of the genotypes with no false negatives or positives. If ASPCR is able to discriminate all allelic variation (both transition and transversion mutations), this method has the potential to be a powerful approach for genetic disease diagnosis, carrier screening, HLA typing, human gene mapping, forensics, and paternity testing.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-2448875, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-2847780, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-2906038, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-2999980, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-3023965, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-3186714, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-3413476, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-3627274, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-3758679, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-3785382, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-4312461, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-6176866, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-6272289, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-6272317, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-6306478, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-6572002, http://linkedlifedata.com/resource/pubmed/commentcorrection/2704745-81926
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:volume
86
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2757-60
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia.
pubmed:affiliation
Department of Molecular Biochemistry, Beckman Research Institute of the City of Hope, Duarte, CA 91010.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, U.S. Gov't, Non-P.H.S., Research Support, Non-U.S. Gov't