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Title:
Enzymatic Amplification of beta -Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia
Authors:
Saiki, Randall K.; Scharf, Stephen; Faloona, Fred; Mullis, Kary B.; Horn, Glenn T.; Erlich, Henry A.; Arnheim, Norman
Publication:
Science, Volume 230, Issue 4732, pp. 1350-1354 (Sci Homepage)
Publication Date:
12/1985
Origin:
JSTOR
DOI:
10.1126/science.2999980
Bibliographic Code:
1985Sci...230.1350S

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.
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