A sensitive new prenatal test for sickle-cell anemia.

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 . . .