A Sensitive New Prenatal Test for Sickle-Cell Anemia
- 1 July 1982
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 307 (1) , 30-32
- https://doi.org/10.1056/nejm198207013070105
Abstract
METHODS for prenatal diagnosis of sickle-cell anemia are improving rapidly.1 Initially the diagnostic procedure required fetal blood sampling, but new techniques for restriction-endonuclease analysis of DNA now permit the use of amniocentesis. A polymorphic HpaI site, present in 70 per cent of the American black population, was first used to diagnose the sickle mutation in the β-globin gene by linkage analysis.2 Recently the enzyme DdeI was shown to detect the sickle mutation directly in all cases.3 , 4 A drawback of the DdeI assay is that the amniotic cells must be cultured to provide a sufficient amount of DNA . . .Keywords
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