Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

Author: Saiki, R.K.; Scharf, S.; Faloona, F.; Mullis, K.B.; Horn, G.T.; Erlich, H.A.; Arnheim, N.

Description: 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.

Subject headings: Anemia, Sickle Cell/diagnosis/genetics; Base Sequence; Gene Amplification; Globins/genetics; History, 20th Century; Humans; Molecular Sequence Data; Nuclease

Publication year: 1985

Journal or book title: Science

Volume: 230

Pages: 1350-1354

Find the full text: https://www.mun.ca/biology/scarr/Saiki,_Mullis_et_al_1985_Science_230,1250.pdf

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Type: Journal Article

Serial number: 318