Publication Date:
1985-12-20
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Saiki, R K -- Scharf, S -- Faloona, F -- Mullis, K B -- Horn, G T -- Erlich, H A -- Arnheim, N -- New York, N.Y. -- Science. 1985 Dec 20;230(4732):1350-4.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2999980" target="_blank"〉PubMed〈/a〉
Keywords:
Alleles
;
Anemia, Sickle Cell/*diagnosis/genetics
;
Base Sequence
;
Clinical Laboratory Techniques
;
DNA Restriction Enzymes
;
DNA-Directed DNA Polymerase
;
Escherichia coli
;
*Gene Amplification
;
Globins/*genetics
;
Humans
;
Nucleic Acid Hybridization
;
Polymorphism, Genetic
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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