title: Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.
abstract: 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.
mesh_terms: D000483:Alleles; D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D019411:Clinical Laboratory Techniques; D004262:DNA Restriction Enzymes; D004259:DNA-Directed DNA Polymerase; D004926:Escherichia coli; D005784:Gene Amplification; D005914:Globins / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic
chemical_list: D005914:Globins; D004259:DNA-Directed DNA Polymerase; D004262:DNA Restriction Enzymes