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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.
Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia. The first involves the primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the exponential increase (220,000 times) of target DNA copies. In the second technique, the presence of the beta A and beta S alleles is determined by restriction endonuclease digestion of an end-labeled oligonucleotide probe hybridized in solution to the amplified beta-globin sequences. The beta-globin genotype can be determined in less than 1 day on samples containing significantly less than 1 microgram of genomic DNA.
PMID: 2999980 [PubMed - indexed for MEDLINE]
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Cited by over 100 PubMed Central articles
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Genetic detection and characterization of Lujo virus, a new hemorrhagic fever-associated arenavirus from southern Africa.
Briese T, Paweska JT, McMullan LK, Hutchison SK, Street C, Palacios G, Khristova ML, Weyer J, Swanepoel R, Egholm M, et al.
PLoS Pathog. 2009 May; 5(5):e1000455. Epub 2009 May 29.
[PLoS Pathog. 2009]
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A comprehensive collection of experimentally validated primers for Polymerase Chain Reaction quantitation of murine transcript abundance.
Spandidos A, Wang X, Wang H, Dragnev S, Thurber T, Seed B.
BMC Genomics. 2008 Dec 24; 9:633. Epub 2008 Dec 24.
[BMC Genomics. 2008]
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Sensitive isothermal detection of nucleic-acid sequence by primer generation-rolling circle amplification.
Murakami T, Sumaoka J, Komiyama M.
Nucleic Acids Res. 2009 Feb; 37(3):e19. Epub 2008 Dec 23.
[Nucleic Acids Res. 2009]
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